| - GRCh37:
- Chr12:48389674
- GRCh38:
- Chr12:47995891
| COL2A1 | G144D, G213D | Platyspondylic dysplasia, Torrance type | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48374362
- GRCh38:
- Chr12:47980579
| COL2A1 | G867D, G798D | Platyspondylic dysplasia, Torrance type, not provided | Likely pathogenic
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48380207
- GRCh38:
- Chr12:47986424
| COL2A1 | G411E, G480E | not provided, Platyspondylic dysplasia, Torrance type | Likely pathogenic
(May 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48370633
- GRCh38:
- Chr12:47976850
| COL2A1 | R1064C, R1133C | not provided, Spondyloepiphyseal dysplasia congenita | Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48379703
- GRCh38:
- Chr12:47985920
| COL2A1 | G456S, G525S | Achondrogenesis type II, Kniest dysplasia, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Platyspondylic dysplasia, Torrance type, Spondyloepimetaphyseal dysplasia, Strudwick type
| Likely pathogenic
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48371788
- GRCh38:
- Chr12:47978005
| COL2A1 | | Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Spondyloepimetaphyseal dysplasia, Strudwick type,
Kniest dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular,
Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, Spondyloepiphyseal dysplasia congenita,
Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal typeVitreoretinopathy with phalangeal epiphyseal dysplasia,
Legg-Calve-Perthes disease, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, not provided, ...see more | Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372559
- GRCh38:
- Chr12:47978776
| COL2A1 | | not provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Stickler syndrome, type I, nonsyndromic ocular, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenitaVitreoretinopathy with phalangeal epiphyseal dysplasia,
Spondyloperipheral dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, Legg-Calve-Perthes disease,
Kniest dysplasia, Czech dysplasia, metatarsal type, ...see more | Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372480
- GRCh38:
- Chr12:47978697
| COL2A1 | R863Q, R932Q | not provided, Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasia,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Czech dysplasia, metatarsal type, Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease,
Kniest dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Achondrogenesis type II, Namaqualand hip dysplasia,
Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, ...see more | Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48372417
- GRCh38:
- Chr12:47978634
| COL2A1 | P884fs, P953fs | Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Spondyloperipheral dysplasia,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Spondyloepiphyseal dysplasia, Stanescu type, Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton type,
Legg-Calve-Perthes disease, Spondyloepiphyseal dysplasia congenitaCzech dysplasia, metatarsal type,
Kniest dysplasia, Stickler syndrome, type I, nonsyndromic ocular, Namaqualand hip dysplasia,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, not provided, ...see more | Pathogenic
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48378854
- GRCh38:
- Chr12:47985071
| COL2A1 | R586H, R517H | not provided, Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type,
Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Achondrogenesis type II, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe typeSpondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu type, Avascular necrosis of femoral head, primary, 1,
Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, ...see more | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48369852
- GRCh38:
- Chr12:47976069
| COL2A1 | G1095D, G1164D | Platyspondylic dysplasia, Torrance type, not provided | Likely pathogenic
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48379512
- GRCh38:
- Chr12:47985729
| COL2A1 | R491P, R560P | not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367935
- GRCh38:
- Chr12:47974152
| COL2A1 | | not provided, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Stickler syndrome, type I, nonsyndromic ocular,
Achondrogenesis type II, Legg-Calve-Perthes disease, Kniest dysplasia,
Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasiaNamaqualand hip dysplasia,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Avascular necrosis of femoral head, primary, 1, ...see more | Likely benign
(Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367235
- GRCh38:
- Chr12:47973452
| COL2A1 | | Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease,
Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe typeSpondyloepiphyseal dysplasia congenita,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, Czech dysplasia, metatarsal type,
Spondyloepiphyseal dysplasia, Stanescu type, not provided, ...see more | Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372389
- GRCh38:
- Chr12:47978606
| COL2A1 | | not provided, Achondrogenesis type II, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Stickler syndrome type 1, Stickler syndrome, type I, nonsyndromic ocular,
Spondyloepiphyseal dysplasia congenita, Avascular necrosis of femoral head, primary, 1, Multiple epiphyseal dysplasia, Beighton type,
Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick typePlatyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia - Sutcliffe type, Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, ...see more | Likely benign
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48368518
- GRCh38:
- Chr12:47974735
| COL2A1 | | not provided, Avascular necrosis of femoral head, primary, 1, Achondrogenesis type II,
Spondyloepiphyseal dysplasia, Stanescu type, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Stickler syndrome, type I, nonsyndromic ocular,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance typeSpondylometaphyseal dysplasia - Sutcliffe type,
Spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Legg-Calve-Perthes disease,
Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, ...see more | Likely benign
(May 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372477
- GRCh38:
- Chr12:47978694
| COL2A1 | G864E, G933E | not provided | Likely pathogenic
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48371897
- GRCh38:
- Chr12:47978114
| COL2A1 | E1003K, E934K | Namaqualand hip dysplasia, Czech dysplasia, metatarsal type, Stickler syndrome, type I, nonsyndromic ocular,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Legg-Calve-Perthes disease, Spondyloperipheral dysplasia,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe typeSpondyloepiphyseal dysplasia, Stanescu type,
Avascular necrosis of femoral head, primary, 1, Kniest dysplasia, Achondrogenesis type II,
Multiple epiphyseal dysplasia, Beighton type, not provided, ...see more | Uncertain significance
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48383555
- GRCh38:
- Chr12:47989772
| COL2A1 | A284T, A353T | not provided, Namaqualand hip dysplasia, Achondrogenesis type II,
Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Spondyloperipheral dysplasia,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Spondyloepiphyseal dysplasia, Stanescu type, Legg-Calve-Perthes diseaseKniest dysplasia,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular,
Avascular necrosis of femoral head, primary, 1, Spondyloepimetaphyseal dysplasia, Strudwick type, ...see more | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48378361
- GRCh38:
- Chr12:47984578
| COL2A1 | E619K, E550K | not provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Kniest dysplasia, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia congenita, Czech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton typeNamaqualand hip dysplasia,
Legg-Calve-Perthes disease, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia,
Stickler syndrome type 1, Spondyloepiphyseal dysplasia, Stanescu type, ...see more | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48391982
- GRCh38:
- Chr12:47998199
| COL2A1 | | Achondrogenesis type II, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu type, Legg-Calve-Perthes disease,
Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, Avascular necrosis of femoral head, primary, 1,
Platyspondylic dysplasia, Torrance type, Spondyloperipheral dysplasiaStickler syndrome type 1,
Czech dysplasia, metatarsal type, Multiple epiphyseal dysplasia, Beighton type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, not provided, ...see more | Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48374344
- GRCh38:
- Chr12:47980561
| COL2A1 | G873V, G804V | Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Multiple epiphyseal dysplasia, Beighton type,
Stickler syndrome, type I, nonsyndromic ocular, Epiphyseal dysplasia, multiple, 6, Namaqualand hip dysplasia,
Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Platyspondylic dysplasia, Torrance type,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1Spondyloperipheral dysplasia,
Czech dysplasia, metatarsal type, Stickler syndrome, type 4, Legg-Calve-Perthes disease,
Kniest dysplasia, ...see more | Uncertain significance
(May 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367310
- GRCh38:
- Chr12:47973527
| COL2A1 | | Connective tissue disorder, not specified, Type II Collagenopathies,
not provided, Stickler syndrome type 1, Achondrogenesis type II,
Spondyloperipheral dysplasia, Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular,
Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasiaCzech dysplasia, metatarsal type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita,
Legg-Calve-Perthes disease, Kniest dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
...see more | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48376664
- GRCh38:
- Chr12:47982881
| COL2A1 | | not specified, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Namaqualand hip dysplasia,
Legg-Calve-Perthes disease, Stickler syndrome type 1Platyspondylic dysplasia, Torrance type,
Kniest dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Connective tissue disorder,
not provided, ...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48387766
- GRCh38:
- Chr12:47993983
| COL2A1 | | not specified, not provided, Achondrogenesis type II,
Spondyloperipheral dysplasia, Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular,
Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasia, Czech dysplasia, metatarsal type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton typeSpondyloepiphyseal dysplasia congenita,
Legg-Calve-Perthes disease, Kniest dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
...see more | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48387611
- GRCh38:
- Chr12:47993828
| COL2A1 | A302V, A233V | Spondyloepimetaphyseal dysplasia, Strudwick type, Abnormality of the skeletal system, Achondrogenesis type II,
Avascular necrosis of femoral head, primary, 1, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Namaqualand hip dysplasia,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton type,
Spondyloperipheral dysplasia, Platyspondylic dysplasia, Torrance typeLegg-Calve-Perthes disease,
Kniest dysplasia, Stickler syndrome type 1, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu type, Czech dysplasia, metatarsal type,
not provided, Spondyloepiphyseal dysplasia congenita, ...see more | Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48388220
- GRCh38:
- Chr12:47994437
| COL2A1 | P268L, P199L | not provided, Stickler syndrome type 1, Achondrogenesis type II,
Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Namaqualand hip dysplasia,
Kniest dysplasia, Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu typeMultiple epiphyseal dysplasia, Beighton type,
Czech dysplasia, metatarsal type, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Type II Collagenopathies, ...see more | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48376733
- GRCh38:
- Chr12:47982950
| COL2A1 | | Connective tissue disorder, not specified, not provided,
Type II Collagenopathies, Stickler syndrome type 1, Legg-Calve-Perthes disease,
Spondyloperipheral dysplasia, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type,
Czech dysplasia, metatarsal type, Spondyloepimetaphyseal dysplasia, Strudwick typeStickler syndrome type 1,
Spondyloepiphyseal dysplasia, Stanescu type, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Achondrogenesis type II,
Avascular necrosis of femoral head, primary, 1, Namaqualand hip dysplasia, Platyspondylic dysplasia, Torrance type,
...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48373833
- GRCh38:
- Chr12:47980050
| COL2A1 | V880M, V811M | not provided | Uncertain significance
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48377898
- GRCh38:
- Chr12:47984115
| COL2A1 | T638I, T569I | Connective tissue disorder, not specified, not provided,
Type II Collagenopathies, Stickler syndrome type 1, Achondrogenesis type II,
Avascular necrosis of femoral head, primary, 1, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe typeSpondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Czech dysplasia, metatarsal type,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome, type I, nonsyndromic ocular, Multiple epiphyseal dysplasia, Beighton type,
Legg-Calve-Perthes disease, Namaqualand hip dysplasia, Kniest dysplasia,
...see more | Benign/Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48379731
- GRCh38:
- Chr12:47985948
| COL2A1 | | not specified, not provided, Stickler syndrome type 1,
Spondyloperipheral dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton type,
Namaqualand hip dysplasia, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia - Sutcliffe type, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondyloepiphyseal dysplasia, Stanescu type,
Spondyloepiphyseal dysplasia congenita, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease,
Kniest dysplasia, Czech dysplasia, metatarsal type, Stickler syndrome, type I, nonsyndromic ocular,
Achondrogenesis type II, Connective tissue disorder, Type II Collagenopathies,
...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48381045
- GRCh38:
- Chr12:47987262
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1,
Spondyloperipheral dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton type,
Namaqualand hip dysplasia, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia - Sutcliffe type, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondyloepiphyseal dysplasia, Stanescu type,
Spondyloepiphyseal dysplasia congenita, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease,
Kniest dysplasia, Czech dysplasia, metatarsal type, Stickler syndrome, type I, nonsyndromic ocular,
Achondrogenesis type II, Connective tissue disorder, not specified,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48393736
- GRCh38:
- Chr12:47999953
| COL2A1 | C86* | Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Avascular necrosis of femoral head, primary, 1,
Kniest dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasia,
Platyspondylic dysplasia, Torrance type, Stickler syndrome type 1Stickler syndrome, type I, nonsyndromic ocular,
Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type, not provided,
...see more | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48375911
- GRCh38:
- Chr12:47982128
| COL2A1 | | Connective tissue disorder, not provided, Achondrogenesis type II,
Namaqualand hip dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Avascular necrosis of femoral head, primary, 1,
Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease, Stickler syndrome, type I, nonsyndromic ocular,
Spondyloperipheral dysplasia, Stickler syndrome type 1Platyspondylic dysplasia, Torrance type,
Spondyloepiphyseal dysplasia, Stanescu type, Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Kniest dysplasia, Czech dysplasia, metatarsal type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Stickler syndrome type 1, not specified, Type II Collagenopathies,
...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48368589
- GRCh38:
- Chr12:47974806
| COL2A1 | C1315G, C1246G | Platyspondylic dysplasia, Torrance type | not provided | no assertion provided |
| - GRCh37:
- Chr12:48377504
- GRCh38:
- Chr12:47983721
| COL2A1 | R584*, R653* | Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II, Spondyloepiphyseal dysplasia, Stanescu type,
Kniest dysplasia, Spondyloperipheral dysplasia, Czech dysplasia, metatarsal type,
Multiple epiphyseal dysplasia, Beighton type, Stickler syndrome type 1Platyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, not provided,
...see more | Pathogenic
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367238-48367241
- GRCh38:
- Chr12:47973455-47973458
| COL2A1 | G1403fs, G1472fs | Platyspondylic dysplasia, Torrance type | Pathogenic
(Jan 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr12:48368017
- GRCh38:
- Chr12:47974234
| COL2A1 | Y1391C, Y1322C | not provided | Likely pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48372112
- GRCh38:
- Chr12:47978329
| COL2A1 | R920C, R989C | Achondrogenesis type II, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome, type I, nonsyndromic ocular,
Kniest dysplasia, Czech dysplasia, metatarsal type, Stickler syndrome type 1,
Spondyloperipheral dysplasia, Namaqualand hip dysplasia, Multiple epiphyseal dysplasia, Beighton type,
Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenitaPlatyspondylic dysplasia, Torrance type,
Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1, not provided,
Spondyloperipheral dysplasia, Spondyloepiphyseal dysplasia congenita, ...see more | Pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |