| - GRCh37:
- Chr2:216296597
- GRCh38:
- Chr2:215431874
| FN1 | C169Y | Spondylometaphyseal dysplasia | Likely pathogenic
(May 9, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:216298094
- GRCh38:
- Chr2:215433371
| FN1 | C123Y | Spondylometaphyseal dysplasia | Likely pathogenic
(May 9, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:216295485
- GRCh38:
- Chr2:215430762
| FN1 | C213Y | not provided | Pathogenic
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48374344
- GRCh38:
- Chr12:47980561
| COL2A1 | G873V, G804V | Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type, Platyspondylic dysplasia, Torrance type,
Namaqualand hip dysplasia, Czech dysplasia, metatarsal type, Avascular necrosis of femoral head, primary, 1,
Legg-Calve-Perthes disease, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Spondyloepiphyseal dysplasia, Stanescu type, Kniest dysplasiaSpondylometaphyseal dysplasia,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular, Epiphyseal dysplasia, multiple, 6,
Stickler syndrome, type 4, ...see more | Uncertain significance
(May 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216292974
- GRCh38:
- Chr2:215428251
| FN1 | C258Y | not provided | Uncertain significance
(Jul 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216273022-216273024
- GRCh38:
- Chr2:215408299-215408301
| FN1 | T809del | Spondylometaphyseal dysplasia - Sutcliffe type | Uncertain significance
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216292969
- GRCh38:
- Chr2:215428246
| FN1 | C260G | Spondylometaphyseal dysplasia - Sutcliffe type | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216293029
- GRCh38:
- Chr2:215428306
| FN1 | Y240D | Spondylometaphyseal dysplasia - Sutcliffe type | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216295448
- GRCh38:
- Chr2:215430725
| FN1 | C225W | Spondylometaphyseal dysplasia - Sutcliffe type | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216298095
- GRCh38:
- Chr2:215433372
| FN1 | C123R | Spondylometaphyseal dysplasia - Sutcliffe type, not provided | Pathogenic/Likely pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:216299436
- GRCh38:
- Chr2:215434713
| FN1 | C87F | Spondylometaphyseal dysplasia - Sutcliffe type | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216293054
- GRCh38:
- Chr2:215428331
| FN1 | C231W | not provided | Likely pathogenic
(Jun 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110271218
- GRCh38:
- Chr12:109833413
| MIR4497, TRPV4 | | Brachyolmia, Spondylometaphyseal dysplasia, Charcot-Marie-Tooth disease type 2,
Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48388220
- GRCh38:
- Chr12:47994437
| COL2A1 | P268L, P199L | not provided, Type II Collagenopathies, Achondrogenesis type II,
Avascular necrosis of femoral head, primary, 1, Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease,
Kniest dysplasia, Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu typeNamaqualand hip dysplasia,
Czech dysplasia, metatarsal type, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Stickler syndrome type 1, ...see more | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110221558
- GRCh38:
- Chr12:109783753
| TRPV4 | | Autosomal dominant congenital benign spinal muscular atrophy, Brachyolmia, Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 2, not provided, Spondylometaphyseal dysplasia
| Likely benign
(Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48393736
- GRCh38:
- Chr12:47999953
| COL2A1 | C86* | Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease,
Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Platyspondylic dysplasia, Torrance type,
Namaqualand hip dysplasia, Stickler syndrome, type I, nonsyndromic ocular, Kniest dysplasia,
Spondyloepiphyseal dysplasia, Stanescu type, Czech dysplasia, metatarsal typeMultiple epiphyseal dysplasia, Beighton type,
Spondyloperipheral dysplasia, Stickler syndrome type 1, not provided,
...see more | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48377504
- GRCh38:
- Chr12:47983721
| COL2A1 | R584*, R653* | Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome, type I, nonsyndromic ocular, Czech dysplasia, metatarsal type,
Multiple epiphyseal dysplasia, Beighton type, Achondrogenesis type II, Spondylometaphyseal dysplasia,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1, Kniest dysplasia,
Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1Platyspondylic dysplasia, Torrance type,
Spondyloperipheral dysplasia, Namaqualand hip dysplasia, not provided,
...see more | Pathogenic
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372112
- GRCh38:
- Chr12:47978329
| COL2A1 | R920C, R989C | Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, Czech dysplasia, metatarsal type,
Kniest dysplasia, Platyspondylic dysplasia, Torrance type, Stickler syndrome type 1,
Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1, Spondyloperipheral dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia congenitaNamaqualand hip dysplasia,
Multiple epiphyseal dysplasia, Beighton type, Achondrogenesis type II, not provided,
Spondyloperipheral dysplasia, Spondyloepiphyseal dysplasia congenita, ...see more | Pathogenic/Likely pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |