| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| PCDH15 | Usher Syndrome, Type 1F | IVS27-2A>G | Pakistani (1) | Ahmed 2001 | ||
| R3X | 7C>T | exon 2 | Pakistani (1); Indian (1) | Ahmed 2001; Alagramam 2001 | ||
| X @ 419 | 1471delT | exon 10 | Hutterite (1) | Alagramam 2001 |