| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| POU3F4 | DFN3 | del1200kb | N/A (1) | Arellano 2000 | ||
| del | entire gene | N/A (1) | de Kok 1996 | |||
| Rearrangement | upstream | N/A (1) | de Kok 1995b | |||
| del 120kb | upstream | N/A (1) | de Kok 1996 | |||
| del 200kb | upstream | N/A (1) | de Kok 1996 | |||
| del 220kb | upstream | N/A (1) | de Kok 1996 | |||
| del 30kb | upstream | N/A (1) | de Kok 1996 | |||
| del 8kb | upstream | N/A (1) | de Kok 1996 | |||
| del 2.6kb, 6.5kb, 7kb, 4.4kb upstream | French (1) | de Kok 1996 | ||||
| 201-202delFK | 601-606del6bp | POU specific | Japanese (1) | Hagiwara 1998 | ||
| K202X | 603del4 | POU specific | N/A (1) | de Kok 1995a | ||
| D215X | 648delG | POU specific | N/A (1) | de Kok 1995a | ||
| T230I | 689C>T | POU specific | N/A (1) | Friedman 1997 | ||
| FS | 862del4 | POU homeo | Finnish (1) | Bitner-Glindzicz 1995 | ||
| L298X | 895delA | POU homeo | N/A (1) | de Kok 1995a | ||
| A312V | 935C>T | POU homeo | British (1) | Bitner-Glindzicz 1995 | ||
| L317W | 950T>G | POU homeo | N/A (1) | de Kok 1995a | ||
| R323G (mosaic) | 967C>G | POU homeo | N/A (1) | de Kok 1997 | ||
| R329G | 985C>G | POU homeo | N/A (1) | Friedman 1997 | ||
| R330S | 990A>T | POU homeo | N/A (1) | de Kok 1997 | ||
| K334E | 1000A>G | POU homeo | N/A (1) | de Kok 1995a |