| - GRCh37:
- Chr6:70944296
- GRCh38:
- Chr6:70234593
| COL9A1 | G462R, G511R, G521R, G754R | Stickler syndrome, type 4 | Uncertain significance
(Oct 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:70944272
- GRCh38:
- Chr6:70234569
| COL9A1 | I470V, I519V, I529V, I762V | Stickler syndrome, type 4 | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:70935664
- GRCh38:
- Chr6:70225961
| COL9A1 | N559S, N608S, N851S, N618S | not provided, Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4
| Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:71012614
- GRCh38:
- Chr6:70302911
| COL9A1 | W5* | not provided, Stickler syndrome, type 4, Epiphyseal dysplasia, multiple, 6
| Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70944286
- GRCh38:
- Chr6:70234583
| COL9A1 | P524L, P465L, P514L, P757L | Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4, not provided
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:71011719
- GRCh38:
- Chr6:70302016
| COL9A1 | V25L | not provided, Stickler syndrome, type 4, Epiphyseal dysplasia, multiple, 6
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70944528
- GRCh38:
- Chr6:70234825
| COL9A1 | A500V, A510V, A743V | not provided, Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4
| Uncertain significance
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70950375-70950376
- GRCh38:
- Chr6:70240672-70240673
| COL9A1 | | Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4, not provided
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:71011685
- GRCh38:
- Chr6:70301982
| COL9A1 | | Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4, not provided
| Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70942385
- GRCh38:
- Chr6:70232682
| COL9A1 | G510S, G559S, G569S, G802S | not provided, Stickler syndrome, type 4 | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:71003886
- GRCh38:
- Chr6:70294183
| COL9A1 | P227L | Stickler syndrome, type 4, Epiphyseal dysplasia, multiple, 6, not provided
| Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70944582
- GRCh38:
- Chr6:70234879
| COL9A1 | V482A, V725A, V492A | not provided, Stickler syndrome, type 4 | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:71004214
- GRCh38:
- Chr6:70294511
| COL9A1 | R118* | not provided, Stickler syndrome, type 4 | Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48374344
- GRCh38:
- Chr12:47980561
| COL2A1 | G873V, G804V | Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Namaqualand hip dysplasia,
Stickler syndrome, type 4, Multiple epiphyseal dysplasia, Beighton type, Stickler syndrome type 1,
Spondyloperipheral dysplasia, Platyspondylic dysplasia, Torrance type, Legg-Calve-Perthes disease,
Kniest dysplasia, Spondylometaphyseal dysplasiaSpondyloepiphyseal dysplasia congenita,
Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type I, nonsyndromic ocular, Czech dysplasia, metatarsal type,
Spondyloepiphyseal dysplasia, Stanescu type, ...see more | Uncertain significance
(May 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:71003940
- GRCh38:
- Chr6:70294237
| COL9A1 | R209K | Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4, not provided
| Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70926743
- GRCh38:
- Chr6:70217040
| COL9A1 | G875S, G632S, G583S, G642S | Stickler syndrome, type 4, Epiphyseal dysplasia, multiple, 6, not provided
| Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:71004213
- GRCh38:
- Chr6:70294510
| COL9A1 | R118Q | Stickler syndrome, type 4, Epiphyseal dysplasia, multiple, 6, not provided
| Conflicting interpretations of pathogenicity
(Apr 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:70991091
- GRCh38:
- Chr6:70281388
| COL9A1 | | not provided, COL9A1-Related Disorders, Stickler syndrome, type 4
| Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:70964697
- GRCh38:
- Chr6:70254994
| COL9A1 | R545H, R302H | not provided, Inborn genetic diseases, Stickler syndrome, type 4,
Epiphyseal dysplasia, multiple, 6 | Conflicting interpretations of pathogenicity
(Dec 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:70942319
- GRCh38:
- Chr6:70232616
| COL9A1 | P824T, P581T, P532T, P591T | Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4, Connective tissue disorder,
not specified, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70965078
- GRCh38:
- Chr6:70255375
| COL9A1 | R507*, R264* | Connective tissue disorder, not provided | Pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:70990736
- GRCh38:
- Chr6:70281033
| COL9A1 | R295*, R52* | See cases | Pathogenic
(Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:70991090-70991091
- GRCh38:
- Chr6:70281387-70281388
| COL9A1 | | not provided, Stickler syndrome, type 4, Epiphyseal dysplasia, multiple, 6,
not specified | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |