| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| TCOF1 | Treacher Collins | Q36X | C>T | exon 1 | N/A (1) | Edwards 1997 |
| IVS-1delG | N/A (1) | Edwards 1997 | ||||
| W53R | T>C | exon 2 | N/A (1) | Edwards 1997 | ||
| 274delG | exon 3 | N/A (1) | Edwards 1997 | |||
| E93X | G>T | exon 3 | N/A (1) | Edwards 1997 | ||
| IVS3+5G>C | N/A (2) | Edwards 1997 | ||||
| 405delTG | exon 5 | N/A (1) | Gladwin 1996 | |||
| H141FS | 422insA | exon 5 | N/A (1) | Wise 1997 | ||
| N166FS | 497delATAC | exon 5 | N/A (1) | Wise 1997 | ||
| 630delAG | exon 6 | N/A (1) | Gladwin 1996 | |||
| 724insC | exon 7 | N/A (1) | TCSCG 1996 | |||
| Q252X | 703C>T | exon 7 | N/A (1) | TCSCG 1996 | ||
| 1120delG | exon 9 | N/A (1) | Edwards 1997 | |||
| 1164insT | exon 9 | Brazil (1) | Splendore 2000 | |||
| 1216insA | exon 9 | N/A (1) | Gladwin 1996 | |||
| 1287insG | exon 10 | Brazil (1) | Splendore 2000 | |||
| 1327insA | exon 10 | N/A (1) | TCSCG 1996 | |||
| 1406delAGAG | exon 10 | Brazil (1) | Splendore 2000 | |||
| S470FS | 1408delAG | exon 10 | N/A (1) | Wise 1997 | ||
| 1441insGG | exon 10 | N/A (1) | TCSCG 1996 | |||
| 1866delAGATAGTG | exon 12 | Brazil (1) | Splendore 2000 | |||
| 1867delGA | exon 12 | Brazil (1) | Splendore 2000 | |||
| 1879delGAGAA | exon 12 | N/A (1) | Edwards 1997 | |||
| 2014insG | exon 13 | N/A (1) | TCSCG 1996 | |||
| 2018delCAGTCACC | exon 13 | Brazil (1) | Splendore 2000 | |||
| K749K | IVS14-1G>A | N/A (1); Brazil (1) | Gladwin 1996; Splendore 2000 | |||
| 2297delG | exon 15 | N/A (1) | Edwards 1997 | |||
| 2354delCAGGGCCAGA | exon 15 | Brazil (2) | Splendore 2000 | |||
| 2355delAG | exon 15 | Brazil (1) | Splendore 2000 | |||
| 2386delG | exon 15 | N/A (1) | Edwards 1997 | |||
| E796X | G>T | exon 15 | Brazil (1) | Splendore 2000 | ||
| 2399delGTGA | exon 15 | N/A (1) | Edwards 1997 | |||
| 2442delG | exon 16 | N/A (1) | Edwards 1997 | |||
| P830FS | 2490delC | exon 16 | N/A (1) | Wise 1997 | ||
| T842FS | 2526delAG | exon 16 | N/A (1) | Wise 1997 | ||
| 2527insA | exon 16 | Brazil (1) | Splendore 2000 | |||
| K851FS | 2552delA, 2561delA | exon 16 | N/A (1) | Wise 1997 | ||
| S855FS | 2565delAG | exon 16 | N/A (1) | Wise 1997 | ||
| 2822delGA | exon 18 | Brazil (1) | Splendore 2000 | |||
| 2998delC | exon 19 | N/A (1) | Edwards 1997 | |||
| 3086delCACTCCC | exon 20 | Brazil (1) | Splendore 2000 | |||
| 3100delA | exon 20 | Brazil (1) | Splendore 2000 | |||
| Q1041X | C>T | exon 20 | N/A (1) | Edwards 1997 | ||
| 3311delC | exon 21 | Brazil (1) | Splendore 2000 | |||
| IVS22+1G>A | N/A (1) | Edwards 1997 | ||||
| 3606delAG | exon 23 | N/A (1) | Edwards 1997 | |||
| 3711delAG | exon 23 | Brazil (1) | Splendore 2000 | |||
| 3987insG | exon 23 | Brazil (2) | Splendore 2000 | |||
| 4108delAA | exon 23 | N/A (1) | Edwards 1997 | |||
| 4130delAAAAA | exon 24 | N/A (1) | Edwards 1997 | |||
| 4135delGAAAA* | exon 24 | N/A (7); Brazil (6) | Edwards 1997; Splendore 2000 | |||
| *16% of all cases |