| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| COL2A1 | Achondrogenesis II | G253D | G>A | exon 19 | N/A (1) | Korkko 2000 |
| G253V | G>T | exon 19 | N/A (1) | Korkko 2000 | ||
| G310D | G>A | N/A (1) | Bonaventure 1995 | |||
| G313S | G>A | N/A (1) | Mortier 2000 | |||
| G517V | G>T | N/A (1) | Mortier 2000 | |||
| G571A | G>C | exon 33 | N/A (1) | Mortier 2000 | ||
| G571D | G>A | exon 33 | N/A (1) | Korkko 2000 | ||
| G580R | G>A | exon 33 | N/A (1) | Korkko 2000 | ||
| G595R | G>C | exon 34 | N/A (1) | Korkko 2000 | ||
| 621 | IVS35+4delAGTG | N/A (1) | Mortier 2000 | |||
| G694E | G>A | exon 39 | N/A (1) | Korkko 2000 | ||
| G748D | G>A | exon 40 | N/A (1) | Korkko 2000 | ||
| G769S | G>A | exon 41 | N/A (1) | Chan 1995a | ||
| G781S | G>A | exon 41 | N/A (1) | Korkko 2000 | ||
| G817V | G>T | exon 42 | N/A | Cohn 1993 | ||
| G865V | G>T | exon 44 | N/A (1) | Korkko 2000 | ||
| G919R | G>A | exon 46 | N/A (1) | Korkko 2000 | ||
| T1191N | C>A | N/A (1) | Mortier 2000 | |||
| Hypochondrogenesis | G574S | G>A | exon 33 | N/A (1) | Horton 1992 | |
| IVS34+1G>A | N/A (1) | Korkko 2000 | ||||
| G604A | G>C | exon 35 | N/A (1) | Freisinger 1994 | ||
| G691R | G>C | exon 38 | N/A (1); N/A (1) | Williams 1995; Mortier 1995 | ||
| G805S | G>A | N/A (1) | Bonaventure 1995 | |||
| 817del6 | del 18 | exon 44 | N/A (1) | Korkko 2000 | ||
| G853E | G>A | N/A (1) | Bogaert 1992 | |||
| G910C | G>T | exon 46 | N/A (1) | Mortier 2000 | ||
| G913C | G>T | exon 46 | N/A (1); Australian (1) | Fresinger 1996, Mundlos 1996 | ||
| G943C | G>T | exon 46 | N/A (1) | Mortier 2000 | ||
| G943S | G>A | exon 46 | N/A (1) | Vissing 1989 | ||
| G988R | G>C | exon 48 | N/A (1) | Williams 1995 | ||
| Kniest Dysplasia | 102del7 | IVS11+35C>T | exon 12 | American (2) | Bogaert 1994 | |
| G103D | G>A | exon 12 | N/A (1) | Wilkin 1994 | ||
| G127D | G>A | N/A (1) | Weis 1998 | |||
| del28 | exon 12 | N/A (1) | Winterpacht 1993 | |||
| del 15 | IVS15+1G>A | N/A (1) | Fernandes 1998 | |||
| del21 | exon 16 | N/A (1) | Wilkin 1999 | |||
| 141 | delGTGA | N/A (1) | Wilkin 1999 | |||
| 226 | del18 | exon 19 | N/A (1) | Wilkin 1999 | ||
| 273 | delGTGA | N/A (1) | Wilkin 1999 | |||
| IVS20-2A>G | N/A (1) | Winterpacht 1994 | ||||
| del18 | IVS24+5G>A | exon 24 | N/A (1) | Weis 1998 | ||
| 1008 | del18 | exon 49 | N/A (1) | Winterpacht 1996 | ||
| Spondylarthopathy | G274S | G>A | Winterpacht 1994 | |||
| Spondyloepiphyseal Dysplasia | R75C | C>T | exon 11 | Chilean (1); N/A (1) | Williams 1993; Bleasel 1995 | |
| G154R | G>A | exon 15 | N/A (1) | Vikkula 1993 | ||
| IVS20+5G>T | N/A (1) | Tiller 1995 | ||||
| G247S | G>A | Ritvaniemi 1994 | ||||
| G292V | G>T | N/A (1) | Tiller 1995 | |||
| I303I, G304C | CG>TT | N/A (1) | Tiller 1995 | |||
| R519C | C>T | exon 31 | N/A (1); N/A (1); N/A (1); American (3) New Zealand (1), Iceland (1); American (1) | Ala-Kokko 1990; Pun 1994; Williams 1995; Bleasel 1998; Mier 2001 | ||
| 621 | delAGTG | Mortier 2000 | ||||
| G709C | G>T | N/A (1) | Tiller 1995 | |||
| R789C | C>T | exon 41 | N/A (1), N/A (1) | Chan 1993, Chan 1995b | ||
| G895S | G>A | exon 45 | N/A (1) | Winterpacht 1995 | ||
| 964del36 | del390 | exon 48 | N/A (1) | Lee 1989 | ||
| 970-984dup15 | dup45 | exon 48 | N/A (1) | Tiller 1990 | ||
| G973R | G>C | exom 47 | Swiss (1) | Sobetzko 2000 | ||
| G976S | G>A | exon 48 | N/A (1) | Williams 1995 | ||
| G997S | G>A | exom 48 | N/A (1) | Chan 1991 | ||
| T1370M | exon 53 | N/A (1) | Unger 2001 | |||
| Stickler Syndrome, Type I | del2 | exon 2 | N/A (1) | Gupta 2002 | ||
| R9X | C>T | exon 7 | N/A (1) | Ahmad 1993 | ||
| W47X | 4246G>A | exon 2 | N/A (1) | Richards 2000 | ||
| -147 | 4266insGGAT | exon 2 | N/A (1) | Richards 2000 | ||
| -146 | 4269delGT | exon 2 | N/A (1) | Richards 2000 | ||
| 48 | ins10 | exon 4 | N/A (1) | Brown 1995 | ||
| G67D | G>A | exon 10 | N/A (2) | Korkko 1993 | ||
| IVS12-1G>A | N/A (1) | Annunen 1999 | ||||
| 101 | 697delCG | Swiss (1) | Faber 2000 | |||
| 110 | 10819delT | exon15 | N/A (1) | Annunen 1999 | ||
| IVS17-2A>G | N/A (1) | Williams 1996 | ||||
| 241 | 17189delT | N/A (1) | Richards 2000 | |||
| 403 | delA | exon 22 | N/A (1) | Brown 1995 | ||
| IVS25+1G>A | N/A (1) | Freddi 2000 | ||||
| R365C | C>T | exon 26 | N/A (2) | Richards 2000a | ||
| L467F | C>T | exon 31 | N/A (1) | Richards 2000a | ||
| G506X | G>T | exon 31 | N/A (1) | Annunen 1999 | ||
| 592 | 22620delC | exon 34 | N/A (1) | Annunen 1999 | ||
| R585X | 22314C>T | exon 35 | N/A (1) | Richards 2000b | ||
| R704C | 2503C>T | exon 35 | South African (1) | Ballo 1998 | ||
| R732X | 25716C>T | exon 39 | N/A (1), N/A (1) | Ahmad 1991, Richards 2000b | ||
| IVS39-1G>T | N/A (1) | Annunen 1999 | ||||
| 716 | delT | exon 40 | White (1) | Brown 1992 | ||
| 717 | 25671insC | exon 42 | N/A (1) | Richards 2000 | ||
| 731 | 25715del25 | exon 42 | N/A (1) | Annunen 1999 | ||
| 737 | 25734insC | exon 42 | N/A (1) | Richards 2000 | ||
| 845 | delT | exon 43 | N/A (1) | Ritvaniemi 1993 | ||
| 1110 | insG | exon 48 | N/A (1) | Brown 1995 | ||
| 1007 | 28829delT | exon 49 | N/A (1) | Annunen 1999 | ||
| 1118 | 29616delC | exon 50 | N/A (1) | Annunen 1999 | ||
| 1125 | delC | exon 50 | N/A (1) | Ahmad 1995 |