| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| COL11A1 | Stickler Syndrome, Type II | G16del18 | IVSA>T | del exon | N/A (1) | Martin 1999 |
| delA | IVS14 | N/A (1) | Annunen 1999 | |||
| G97V | G>T | exon 19? | N/A (1) | Richards 1996 | ||
| G148R | G>C | N/A (1) | Annunen 1999 | |||
| 307del258 | del774 | exon 31-42? | N/A (1) | Martin 1999 | ||
| G988V | G>T | N/A (1) | Annunen 1999 | |||
| 392 | del18 | exon 36 | N/A (1) | Annunen 1999 | ||
| 784 | del9 | exon 52 | N/A (1) | Annunen 1999 | ||
| Marshall Syndrome | IVS38+1G>T | N/A (1) | Annunen 1999 | |||
| IVS38+2T>C | N/A (1) | Annunen 1999 | ||||
| IVS43-2A>G | N/A (1) | Annunen 1999 | ||||
| IVS47-2A>G | N/A (1) | Annunen 1999 | ||||
| IVS50+1G>A | N/A (1) | Griffith 1998 | ||||
| IVS50+1G>C | N/A (1) | Annunen 1999 | ||||
| IVS50+3A>C | N/A (1) | Annunen 1999 | ||||
| IVS54+1G>A | N/A (1) | Annunen 1999 | ||||
| 743 | del4 | exon 50 | N/A (1) | Annunen 1999 | ||
| insT | IVS50 | N/A (1) | Annunen 1999 | |||
| del162 | intron 52-53 | N/A (1) | Annunen 1999 |