| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| MYO15 | DFNB3 | IVS4+1G>T | Pakistani (1) | Liburd 2001 | ||
| N890Y | 2668A>T | exon 28 | Indian (1) | Wang 1998 | ||
| I892F | 2674A>T | exon 28 | Bali (1) | Wang 1998 | ||
| Q1229X | 4023C>T | exon 3 | Pakistani (1) | Liburd 2001 | ||
| K1300X | 3898A>T | exon 39 | Indian (1) | Wang 1998 | ||
| Q2716H | 8486G>T | exon 44 | Pakistani (1) | Liburd 2001 | ||
| Smith-Magenis | T2205I | 6952C>T* | N/A | Pakistani/Indian (1) | Liburd 2001 | |
| *hemizygous mutation |