| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| COL11A2 | DFNA13 | G323E | 970G>A | exon31 | Dutch (1) | McGuirt 1999 |
| R549C | 1647C>T | exon42 | American (1) | McGuirt 1999 | ||
| Osteochondrodysplasia | G175R | G>A | Dutch (1) | Vikkula 1995 | ||
| Otospondylomegaepiphyseal Dysplasia | 732delC | exon 5 | Turkish (1) | Melkoniemi 2000 | ||
| R60X | 1636C>T | exon 17 | Dutch (1) | Melkoniemi 2000 | ||
| IVS22-2A>G | Dutch (1) | Melkoniemi 2000 | ||||
| 2406del4ins9 | exon 31 | Turkish (1) | Melkoniemi 2000 | |||
| S345X | 2492C>A | exon 33 | Moroccan (1) | Melkoniemi 2000 | ||
| 3032insC | exon 41 | Finnish (1) | Melkoniemi 2000 | |||
| IVS53+5G>A | North European (1) | Melkoniemi 2000 | ||||
| R845X | 3991C>T | exon 55 | North European (1) | Melkoniemi 2000 | ||
| G1098X | 4750G>T | exon 63 | Finnish (1) | Melkoniemi 2000 | ||
| 4821del23 | exon 64 | Dutch (1) | Melkoniemi 2000 | |||
| Stickler Syndrome, Type III | IVS??+1G>A | Dutch (1) | Vikkula 1995 | |||
| 2775del27 | exon 39 | N/A (1) | Sirko-Osadsa 1998 | |||
| Weissenbacher-Zweymuller Syndrome | G955E | G>A | exon 59 | N/A (1) | Pihlajamaa 1998 |