| - GRCh37:
- Chr20:61468560
- GRCh38:
- Chr20:62837208
| COL9A3 | R577* | Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, Stickler syndrome, not provided | Pathogenic/Likely pathogenic (Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:61451293
- GRCh38:
- Chr20:62819941
| COL9A3 | R90* | Stickler syndrome, not provided | Pathogenic (Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:44146349
- GRCh38:
- Chr18:46566386
| LOXHD1 | V770I | not provided, Inborn genetic diseases, Stickler syndrome
| Conflicting interpretations of pathogenicity (Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:40769240
- GRCh38:
- Chr1:40303568
| COL9A2 | R504* | Stickler syndrome | Likely pathogenic (Apr 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48380862
- GRCh38:
- Chr12:47987079
| COL2A1 | T386M, T455M | not provided, Stickler syndrome | Conflicting interpretations of pathogenicity (Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73550110
- GRCh38:
- Chr10:71790353
| CDH23 | V1997M | Stickler syndrome, not provided | Uncertain significance (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48379371-48379372
- GRCh38:
- Chr12:47985588-47985589
| COL2A1 | | Stickler syndrome | Likely pathogenic (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:40768311
- GRCh38:
- Chr1:40302639
| COL9A2 | G592S | not provided | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:228159701
- GRCh38:
- Chr2:227294985
| COL4A3, MFF-DT | S1147F | not provided, COL4A3-Related Disorders, Stickler syndrome
| Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74762799-74762801
- GRCh38:
- Chr2:74535672-74535674
| LOXL3 | L299del, L83del, L444del | Stickler syndrome, not provided | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:73680423
- GRCh38:
- Chr2:73453296
| ALMS1 | T2259fs, T2258fs | Stickler syndrome, not provided, Alstrom syndrome
| Pathogenic/Likely pathogenic (Apr 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103474074
- GRCh38:
- Chr1:103008518
| COL11A1 | | Stickler syndrome type 2, not provided, Stickler syndrome
| Pathogenic (Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48381415-48381416
- GRCh38:
- Chr12:47987632-47987633
| COL2A1 | | Stickler syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr12:48370672-48370673
- GRCh38:
- Chr12:47976889-47976890
| COL2A1 | E1051fs, E1120fs | Stickler syndrome | Pathogenic (Jan 5, 2012) | no assertion criteria provided |