Nonsense mutation or frameshift stop
| | 732delC | | | | Frameshift/stop in exon 6 | | OSMED | | Recessive | | Functionally null allele secondary to protein truncation or non-sense mRNA decay | | 12 |
| 2492C→A | | | | S831X(345) | | OSMED | | Recessive | | | 12 |
| 2406_2409del, 2405_2410ins9bp | | | | Frameshift/stop in exon 32 | | OSMED | | Recessive | | | 12 |
| | 3991C→T | | | | R1331X (845) | | OSMED | | Recessive | | | 10 |
| | 4821_4843del | | | | Frameshift/stop in exon 64 | | OSMED | | Recessive | | | 12 |
| 1636C→T and IVS22-2 A→G* | | | | R546X (60) and in-frame deletion of exon 23 | | OSMED | | Recessive | | | 12 |
| | 3032_3033insC and 4750G→T* | | | | Frameshift/stop in exon 43 and G1584X (1098) | | OSMED | | Recessive | | | 12 |
| | 3991C→T and IVS53+5G→A* | | | | R1331X (845) and frameshift/stop in exon 56 | | OSMED | | Recessive | | | 12 |
| | | | 529C→T‡ | | R177X | | Non-syndromic cleft palate | | ‡ | | | 19 |
| | | | | | | | | | | | | | |
In-frame deletion
| | | | 2775_2801del | | In-frame deletion of 27 bp in exon 39 | | Non-ocular Stickler | | Dominant | | Functional allele with dominant-negative effect on collagen folding | | 13 |
| | | | 4135C→T | | In-frame deletion of exon 57 | | Non-ocular Stickler | | Dominant | | | 11 |
| | | | IVS60-1G→A | | In-frame deletion of exon 60 | | Non-ocular Stickler | | Dominant | | | 15 |
| | | | | | | | | | | | | | |
Missense mutation
| | 1861C→A† | | | | P621T | | Non-syndromic hearing loss | | Recessive | | Functional allele with recessive-negative effect on collagen folding | | |
| | 1982G→A | | | | G661R (175) | | OSMED | | Recessive | | | 15 |
| | | 2423G→A | | G808E (323) | | Non-syndromic hearing loss | | Dominant | | Functional allele with dominant-negative effect on collagen folding | | 4 |
| | | | 3100C→T | | R1034C (549) | | Non-syndromic hearing loss | | Dominant | | | 4 |
| | | | 4322G→A | | G1441E (955) | | WZS/non-ocular Stickler | | Dominant | | | 14 |