| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary pattern | Ethnic origin | Reference |
| M | 434 | 1 | A | R145Q | 1 | CGG-CAG at ntd 434 -> Arg-Gln at codon 145 | hypertropic cardiomyopathy (ventricular hypertrophy) | Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays | AD*2 | Japanese | Kimura (1997) Nat Genet 16, 379 |
| M | 433 | 1 | G | R145G | 1 | CGG-GGG at ntd 433 -> Arg-Gly at codon 145 | hypertropic cardiomyopathy (ventricular hypertrophy) | Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays | AD | korean | Kimura (1997) Nat Genet 16, 379 |
| M | 484 | 1 | T | R162W | 1 | CGG-TGG at ntd 484 -> Arg-Trp at codon 162 | apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex) | Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays | AD | Japanese | Kimura (1997) Nat Genet 16, 379 |
| M | 607 | 1 | A | G203S | 1 | GGC-AGC at ntd 607 -> Gly-Ser at codon 203 | apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex), WPW syndrome | Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays | AD | Japanese | Kimura (1997) Nat Genet 16, 379 |
| M | 616 | 1 | C | K206Q | 1 | AAA-CAA at ntd 616 -> Lys-Gln at codon 206 | hypertropic cardiomyopathy (ventricular hypertrophy) | Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays | AD | Japanese | Kimura (1997) Nat Genet 16, 379 |
| D | 547 | 3 | 547delAAG | 1 | 3-bps del AAG at ntd 547 | apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex), hypertropic cardiomyopathy (ventricular hypertrophy) | Sudden death in young by ventricular hypertrophy accompanied by myofibrillar disarrays | AD | Japanese | Kimura (1997) Nat Genet 16, 379 | |
| P | 25-8 | 1 | A | 25-8T/A | polymorphism at ntd 25-8 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 48 | 1 | G | 48A/G | polymorphism at ntd 48 (P/P48) | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 108+21 | 1 | A | 108+21G/A | polymorphism at ntd 108+21 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 109-37 | 1 | T | 109-37C/T | polymorphism at ntd 109-37 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 109-17 | 1 | A | 109-17C/A | polymorphism at ntd 109-17 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 150+24 | 1 | G | 150+24A/G | polymorphism at ntd 150+24 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 174 | 1 | T | 174G/T | 1 | polymorphism at ntd 174 (K/N58) | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 |
| P | 220 | 1 | A | 220C/A | 1 | polymorphism at ntd 220 (R/S74) | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 |
| P | 235 | 1 | T | 235C/T | 5 | polymorphism at ntd 235 (R/C79) | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 |
| P | 282+17 | 1 | G | 282+17A/G | polymorphism at ntd 282+17 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 373-4 | 1 | G | 373-4C/G | polymorphism at ntd 373-4 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 537 | 1 | A | 537G/A | polymorphism at ntd 537 (E/E179) | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | |
| P | 549+18 | 1 | 549+18CC/C | polymorphism at ntd 549+18 | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 | ||
| P | 588 | 1 | C | 588T/C | polymorphism at ntd 588 (D/D196) | - | - | - | ND | Kimura (1997) Nat Genet 16, 379 |