| - GRCh37:
- Chr12:48370323
- GRCh38:
- Chr12:47976540
| COL2A1 | G1086S, G1155S | Spondyloperipheral dysplasia | Pathogenic
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48374381
- GRCh38:
- Chr12:47980598
| COL2A1 | G792R, G861R | Spondyloperipheral dysplasia | Likely pathogenic
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48389686
- GRCh38:
- Chr12:47995903
| COL2A1 | R140Q, R209Q | not provided, Spondyloperipheral dysplasia | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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 | | not provided, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Stickler syndrome, type I, nonsyndromic ocular, Platyspondylic dysplasia, Torrance type,
Namaqualand hip dysplasia, Avascular necrosis of femoral head, primary, 1, ...see more | Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372559
- GRCh38:
- Chr12:47978776
| COL2A1 | | not provided, Kniest dysplasia, Legg-Calve-Perthes disease,
Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type, Multiple epiphyseal dysplasia, Beighton type,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular,
Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, ...see more | Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372480
- GRCh38:
- Chr12:47978697
| COL2A1 | R863Q, R932Q | not provided, Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II,
Legg-Calve-Perthes disease, Kniest dysplasia, Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal typeNamaqualand hip dysplasia,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance type, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, ...see more | Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48372417
- GRCh38:
- Chr12:47978634
| COL2A1 | P884fs, P953fs | not provided, Namaqualand hip dysplasia, Czech dysplasia, metatarsal type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Kniest dysplasia, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia, Stanescu typeStickler syndrome type 1,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance type, ...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, Spondyloepiphyseal dysplasia congenita,
Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, Kniest dysplasia,
Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Multiple epiphyseal dysplasia, Beighton type,
Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasiaStickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, ...see more | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48368647
- GRCh38:
- Chr12:47974864
| COL2A1 | | Spondyloperipheral dysplasia | Likely pathogenic
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48389046
- GRCh38:
- Chr12:47995263
| COL2A1 | G183S, G252S | Spondyloperipheral dysplasia | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48383043
- GRCh38:
- Chr12:47989260
| COL2A1 | G295C, G364C | Spondyloperipheral dysplasia | Likely pathogenic
(Dec 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48387831
- GRCh38:
- Chr12:47994048
| COL2A1 | | Spondyloperipheral dysplasia | Pathogenic
(Mar 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48374440
- GRCh38:
- Chr12:47980657
| COL2A1 | A772V, A841V | Spondyloperipheral dysplasia | Uncertain significance
(Sep 28, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr12:48367222
- GRCh38:
- Chr12:47973439
| COL2A1 | G1409S, G1478S | not provided, Spondyloperipheral dysplasia | Conflicting interpretations of pathogenicity
(Jul 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48386659
- GRCh38:
- Chr12:47992876
| COL2A1 | | Spondyloperipheral dysplasia | Pathogenic
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48391474
- GRCh38:
- Chr12:47997691
| COL2A1 | R149H, R80H | Inborn genetic diseases, Spondyloperipheral dysplasia, not provided
| Conflicting interpretations of pathogenicity
(Aug 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367935
- GRCh38:
- Chr12:47974152
| COL2A1 | | not provided, Legg-Calve-Perthes disease, Kniest dysplasia,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular, Spondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Avascular necrosis of femoral head, primary, 1, Platyspondylic dysplasia, Torrance typeNamaqualand hip dysplasia,
Czech dysplasia, metatarsal type, Multiple epiphyseal dysplasia, Beighton type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Stickler syndrome type 1, Spondyloperipheral dysplasia, ...see more | Likely benign
(Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367235
- GRCh38:
- Chr12:47973452
| COL2A1 | | Kniest dysplasia, Achondrogenesis type II, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton typeCzech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, not provided, ...see more | Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372389
- GRCh38:
- Chr12:47978606
| COL2A1 | | not provided, Kniest dysplasia, Achondrogenesis type II,
Namaqualand hip dysplasia, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepimetaphyseal dysplasia, Strudwick typeMultiple epiphyseal dysplasia, Beighton type,
Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, ...see more | Likely benign
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48368518
- GRCh38:
- Chr12:47974735
| COL2A1 | | Kniest dysplasia, Achondrogenesis type II, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton typeCzech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, not provided, ...see more | Likely benign
(May 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372487
- GRCh38:
- Chr12:47978704
| COL2A1 | G861S, G930S | not provided, Spondyloperipheral dysplasia | Likely pathogenic
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48380895
- GRCh38:
- Chr12:47987112
| COL2A1 | G375D, G444D | Spondyloperipheral dysplasia | Likely pathogenic
(Oct 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48371897
- GRCh38:
- Chr12:47978114
| COL2A1 | E1003K, E934K | not provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Czech dysplasia, metatarsal type, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasiaStickler syndrome type 1,
Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, ...see more | Uncertain significance
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48383555
- GRCh38:
- Chr12:47989772
| COL2A1 | A284T, A353T | not provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Czech dysplasia, metatarsal type, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasiaStickler syndrome type 1,
Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, ...see more | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48380644
- GRCh38:
- Chr12:47986861
| COL2A1 | G396S, G465S | Spondyloperipheral dysplasia | Likely pathogenic
(May 31, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:48378361
- GRCh38:
- Chr12:47984578
| COL2A1 | E619K, E550K | not provided, Achondrogenesis type II, Legg-Calve-Perthes disease,
Kniest dysplasia, Czech dysplasia, metatarsal type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, Multiple epiphyseal dysplasia, Beighton type,
Namaqualand hip dysplasia, Spondyloperipheral dysplasiaStickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type, Spondylometaphyseal dysplasia - Sutcliffe type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasia, ...see more | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48370352
- GRCh38:
- Chr12:47976569
| COL2A1 | | Spondyloperipheral dysplasia | Likely pathogenic
(Jun 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:48391982
- GRCh38:
- Chr12:47998199
| COL2A1 | | not provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Spondyloperipheral dysplasia, Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu type,
Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondyloepimetaphyseal dysplasia, Strudwick type,
Czech dysplasia, metatarsal type, Legg-Calve-Perthes disease, Kniest dysplasia,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, ...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, 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:
- Chr12:48367310
- GRCh38:
- Chr12:47973527
| COL2A1 | | Connective tissue disorder, not specified, not provided,
Stickler syndrome type 1, Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type,
Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type, Avascular necrosis of femoral head, primary, 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondylometaphyseal dysplasia - Sutcliffe typeStickler syndrome, type I, nonsyndromic ocular,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita,
Kniest dysplasia, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type, Type II Collagenopathies,
...see more | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48376664
- GRCh38:
- Chr12:47982881
| COL2A1 | | Connective tissue disorder, not specified, not provided,
Achondrogenesis type II, Spondyloepimetaphyseal dysplasia, Strudwick type, Avascular necrosis of femoral head, primary, 1,
Namaqualand hip dysplasia, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe typeMultiple epiphyseal dysplasia, Beighton type,
Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepiphyseal dysplasia congenita,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Czech dysplasia, metatarsal type, Stickler syndrome, type I, nonsyndromic ocular,
Spondyloepiphyseal dysplasia, Stanescu type, ...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,
Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type,
Avascular necrosis of femoral head, primary, 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasiaNamaqualand hip dysplasia,
Spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Spondyloperipheral dysplasia,
Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type,
...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, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Kniest dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita,
Multiple epiphyseal dysplasia, Beighton type, Platyspondylic dysplasia, Torrance typeCzech dysplasia, metatarsal type,
Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia, Stanescu type, Legg-Calve-Perthes disease,
Spondyloperipheral dysplasia, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type,
not provided, Type II Collagenopathies, Abnormality of the skeletal system,
...see more | Pathogenic/Likely pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr12:48376733
- GRCh38:
- Chr12:47982950
| COL2A1 | | Achondrogenesis type II, Legg-Calve-Perthes disease, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepimetaphyseal dysplasia, Strudwick type, Avascular necrosis of femoral head, primary, 1,
Kniest dysplasia, Namaqualand hip dysplasiaMultiple epiphyseal dysplasia, Beighton type,
Spondyloperipheral dysplasia, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Connective tissue disorder, not specified,
Stickler syndrome type 1, not provided, Type II Collagenopathies,
...see more | Benign/Likely benign
(Apr 1, 2023) | 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:
- Chr12:48370901
- GRCh38:
- Chr12:47977118
| COL2A1 | G1104E, G1035E | not provided, Stickler syndrome type 1, Spondyloperipheral dysplasia
| Pathogenic/Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48377898
- GRCh38:
- Chr12:47984115
| COL2A1 | T638I, T569I | Type II Collagenopathies, not provided, Stickler syndrome type 1,
Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type,
Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia,
Stickler syndrome type 1, Vitreoretinopathy with phalangeal epiphyseal dysplasiaAvascular necrosis of femoral head, primary, 1,
Namaqualand hip dysplasia, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular,
Spondyloepiphyseal dysplasia, Stanescu type, not specified, Connective tissue disorder,
...see more | Benign/Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48379731
- GRCh38:
- Chr12:47985948
| COL2A1 | | Stickler syndrome type 1, Connective tissue disorder, not provided,
Type II Collagenopathies, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita,
Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Platyspondylic dysplasia, Torrance type,
Czech dysplasia, metatarsal type, Kniest dysplasiaSpondyloperipheral dysplasia,
Stickler syndrome type 1, Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Achondrogenesis type II, Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasia,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepimetaphyseal dysplasia, Strudwick type, not specified,
...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48381045
- GRCh38:
- Chr12:47987262
| COL2A1 | | not specified, Stickler syndrome type 1, Connective tissue disorder,
Type II Collagenopathies, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita,
Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Platyspondylic dysplasia, Torrance type,
Czech dysplasia, metatarsal type, Kniest dysplasiaSpondyloperipheral dysplasia,
Stickler syndrome type 1, Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Achondrogenesis type II, Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasia,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepimetaphyseal dysplasia, Strudwick type, not provided,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48380136
- GRCh38:
- Chr12:47986353
| COL2A1 | G504S, G435S | Inborn genetic diseases, not provided, Spondyloperipheral dysplasia
| Pathogenic
(May 3, 2023) | 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:
- Chr12:48375911
- GRCh38:
- Chr12:47982128
| COL2A1 | | Connective tissue disorder, not specified, Type II Collagenopathies,
not provided, Stickler syndrome type 1, Achondrogenesis type II,
Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia congenita, Legg-Calve-Perthes disease,
Kniest dysplasia, Czech dysplasia, metatarsal typeStickler syndrome, type I, nonsyndromic ocular,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondylometaphyseal dysplasia - Sutcliffe type,
...see more | Benign/Likely benign
(Jan 1, 2023) | 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:
- Chr12:48367875
- GRCh38:
- Chr12:47974092
| COL2A1 | C1438*, C1369* | Spondyloperipheral dysplasia | Pathogenic
(Aug 30, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr12:48367317
- GRCh38:
- Chr12:47973534
| COL2A1 | G1377fs, G1446fs | Stickler syndrome, type I, nonsyndromic ocular | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr12:48368017
- GRCh38:
- Chr12:47974234
| COL2A1 | Y1391C, Y1322C | not provided | Likely pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367873
- GRCh38:
- Chr12:47974090
| COL2A1 | T1370M, T1439M | Spondyloepiphyseal dysplasia congenita, not provided, Spondyloperipheral dysplasia
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367897-48367898
- GRCh38:
- Chr12:47974114-47974115
| COL2A1 | Y1362fs, Y1431fs | Spondyloperipheral dysplasia | Pathogenic
(May 3, 1996) | no assertion criteria provided |
| - 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 |
| - GRCh37:
- Chr12:48369754
- GRCh38:
- Chr12:47975971
| COL2A1 | G1128S, G1197S | Connective tissue disorder, Spondyloepimetaphyseal dysplasia, Strudwick type, not provided,
Type 2 collagenopathy, Stickler syndrome type 1, Spondyloperipheral dysplasia,
Spondyloepiphyseal dysplasia congenita, Namaqualand hip dysplasia | Pathogenic/Likely pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |