| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| WFS1 | DFNA6/14/38 | K634T | Japanese (1) | Komatsu 2002 | ||
| T699M | 2266C>T | exon 8 | Dutch (1) | Bespalova 2001 | ||
| A716T | 2146G>A | exon 8 | American/Irish (1), Dutch(1); Canadian (1) | Bespalova 2001; Young 2001 | ||
| V779M | 2505G>A | exon 8 | US (1) | Bespalova 2001 | ||
| found in 1/336 controls | ||||||
| L829P | 2656T>C | exon 8 | American (1) | Bespalova 2001 | ||
| G831D | 2662G>A | exon 8 | American (1) | Bespalova 2001 | ||
| Kunz MBHD 2001 | ||||||
| Wolfram Syndrome | Q136X | 406C>T | exon 4 | African/Arabic (1) | Hardy 1999 | |
| IVS4+1G>A | Turkish (1) | Strom 1998 | ||||
| E169K | 505G>A | exon 8 | English (1) | Hardy 1999 | ||
| FS199 | 599delT | exon 8 | German (2) | Strom 1998 | ||
| Q226X | 676C>T | exon 8 | German (1) | Strom 1998 | ||
| E273X | 817G>T | exon 8 | English (2) | Hardy 1999 | ||
| P292S | 874C>T | exon 8 | English (1) | Hardy 1999 | ||
| I296S | 887T>G | exon 8 | English (1) | Hardy 1999 | ||
| Y302X | 906C>A | exon 8 | English (1) | Hardy 1999 | ||
| 354delF | 1060delTTC | exon 8 | English (1) | Hardy 1999 | ||
| Q366X | 1096C>T | exon 8 | German(1), Turkish (1) | Strom 1998 | ||
| 415delV | 1243delGTC | exon 8 | English (1) | Hardy 1999 | ||
| G437R | 1309G>C | exon 8 | English (1) | Hardy 1999 | ||
| 459 | 1380delCACCGAGGT | exon 8 | Turkish (1) | Strom 1998 | ||
| W478X | 1433G>A | exon 8 | English (3) | Hardy 1999 | ||
| 483 | 1610insCTGAAGG | exon 8 | Palestinian (1) | Inoue 1998 | ||
| 502ins8 | 1504ins24 | exon 8 | English (1) | Hardy 1999 | ||
| P504L | 1681C>T | exon 8 | European (1) | Inoue 1998 | ||
| 508delYVYLL | 1685del15 | exon 8 | Japanese (1) | Inoue 1998 | ||
| 507 | 1523delAT | exon 8 | Yugoslavian (1) | Strom 1998 | ||
| FS517 | 1549delC | exon 8 | English (1) | Hardy 1999 | ||
| Q520X | 1558C>T | exon 8 | Turkish (1) | Strom 1998 | ||
| 538-42del | 1611del14 | exon 8 | English (1) | Hardy 1999 | ||
| 567delLF | 1698delCTCTTT | exon 8 | English (1) | Hardy 1999 | ||
| W648X | 1944G>A | exon 8 | European (1); English (1) | Inoue 1998;Hardy 1999 | ||
| Q667X | 1999C>T | exon 8 | English (1) | Hardy 1999 | ||
| Q668X | 2002C>T | exon 8 | English (1) | Hardy 1999 | ||
| Y669C | A>G | exon 8 | German (1) | Strom 1998 | ||
| C690R | 2068T>C | exon 8 | English (1) | Hardy 1999 | ||
| G695V | G>T | exon 8 | European (1) | Inoue 1998 | ||
| W700C | 2100G>T | exon 8 | English (1) | Hardy 1999 | ||
| 2164ins24 | exon 8 | Portugese (1) | Strom 1998 | |||
| P724L | 2341C>T | exon 8 | Japanese (1) | Inoue 1998 | ||
| G736S | 2206G>A | exon 8 | English (1) | Hardy 1999 | ||
| E752X | 2254G>T | exon 8 | English (2) | Hardy 1999 | ||
| FS812 | 2433delA | exon 8 | English (1) | Hardy 1999 | ||
| Q819X | 2455C>T | exon 8 | German (1) | Strom 1998 | ||
| FS883 | 2648delTCTT | exon 8 | English (3) | Hardy 1999 | ||
| P885L | 2654C>T | exon 8 | Pakistani (1) | Hardy 1999 | ||
| FS882 | 2812delTC | exon 8 | Japanese (1) | Inoue 1998 | ||
| Affective Disorder | A559T | G>A | exon 8 | English (4) | Furlong 1999 | |
| Diabetes type I association | R456H | 1367G>A* | exon 8 | Japanese (55) | Awata 2000 | |
| *Mutation was found at lower incidence in control population | ||||||
| H611R | 1831A>G* | exon 8 | Japanese (38) | Awata 2000 | ||
| *Mutation was found at lower incidence in control population | ||||||
| I720V | A>G* | exon 8 | Japanese (37) | Awata 2000 | ||
| *Mutation was found at lower incidence in control population | ||||||
| Diabetes type II ? | R653C | C>T* | exon 8 | Japanese | Awata 2000 | |
| *Mutation was found at lower incidence in control population | ||||||