| - GRCh37:
- Chr12:48375567
- GRCh38:
- Chr12:47981784
| COL2A1 | G732S, G801S | Achondrogenesis type II | Likely pathogenic
(Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48380959
- GRCh38:
- Chr12:47987176
| COL2A1 | G354S, G423S | Achondrogenesis type II | Likely pathogenic
(May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48375944
- GRCh38:
- Chr12:47982161
| COL2A1 | | Achondrogenesis type II | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367308-48367309
- GRCh38:
- Chr12:47973525-47973526
| COL2A1 | V1380fs, V1449fs | Achondrogenesis type II | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48369360
- GRCh38:
- Chr12:47975577
| COL2A1 | G1140D, G1209D | Achondrogenesis type II | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr12:48380957-48380961
- GRCh38:
- Chr12:47987174-47987178
| COL2A1 | | Achondrogenesis type II | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48372136
- GRCh38:
- Chr12:47978353
| COL2A1 | G912S, G981S | Achondrogenesis type II | Pathogenic
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48377509
- GRCh38:
- Chr12:47983726
| COL2A1 | G582V, G651V | Achondrogenesis type II | Likely pathogenic
(Jul 3, 2022) | no assertion criteria provided |
| - 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:
- Chr12:48372082
- GRCh38:
- Chr12:47978299
| COL2A1 | G930C, G999C | Achondrogenesis type II | Likely pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - 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:
- Chr12:48376710
- GRCh38:
- Chr12:47982927
| COL2A1 | G636D, G705D | Achondrogenesis type II | Likely pathogenic
(Jan 30, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:48381086
- GRCh38:
- Chr12:47987303
| COL2A1 | G342E, G411E | Achondrogenesis type II | Likely pathogenic
(Jan 11, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:48371427
- GRCh38:
- Chr12:47977644
| COL2A1 | G1041S, G972S | not provided, Spondyloepimetaphyseal dysplasia, Strudwick type, Achondrogenesis type II
| Pathogenic
(Jul 12, 2023) | 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, 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:
- Chr12:48372159-48372167
- GRCh38:
- Chr12:47978376-47978384
| COL2A1 | | Achondrogenesis type II, not provided | Likely pathogenic
(Sep 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr12:48371388
- GRCh38:
- Chr12:47977605
| COL2A1 | V1054I, V985I | Achondrogenesis type II, not provided | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr12:48375889
- GRCh38:
- Chr12:47982106
| COL2A1 | | Achondrogenesis type II, not provided | Pathogenic
(Jul 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48377852
- GRCh38:
- Chr12:47984069
| COL2A1 | | not provided, Achondrogenesis type II | Conflicting interpretations of pathogenicity
(Apr 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48376712-48376713
- GRCh38:
- Chr12:47982929-47982930
| COL2A1 | G636fs, G705fs | Achondrogenesis type II | Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48369768
- GRCh38:
- Chr12:47975985
| COL2A1 | R1192Q, R1123Q | not provided, Achondrogenesis type II | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48369296
- GRCh38:
- Chr12:47975513
| COL2A1 | E1161D, E1230D | Achondrogenesis type II | Uncertain significance
(Feb 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48391428-48391429
- GRCh38:
- Chr12:47997645-47997646
| COL2A1 | G165fs, G96fs | Achondrogenesis type II, Stickler syndrome type 1, not provided
| Pathogenic/Likely pathogenic
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr12:48389066
- GRCh38:
- Chr12:47995283
| COL2A1 | P176L, P245L | Achondrogenesis type II | Likely benign
(May 31, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:48380126
- GRCh38:
- Chr12:47986343
| COL2A1 | G507E, G438E | Achondrogenesis type II | Likely pathogenic
(Jul 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48379509
- GRCh38:
- Chr12:47985726
| COL2A1 | | Achondrogenesis type II | Likely pathogenic
(Jul 5, 2018) | 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:
- 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 | | Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type, Spondyloperipheral dysplasia,
Legg-Calve-Perthes disease, Kniest dysplasia, Platyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia - Sutcliffe type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocularStickler syndrome type 1,
Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type,
Czech dysplasia, metatarsal type, Connective tissue disorder, not specified,
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,
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:
- Chr12:48371399
- GRCh38:
- Chr12:47977616
| COL2A1 | G1050D, G981D | not provided | Likely pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48377482
- GRCh38:
- Chr12:47983699
| COL2A1 | G660E, G591E | Achondrogenesis type II | Pathogenic
(Oct 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48368054
- GRCh38:
- Chr12:47974271
| COL2A1 | R1379C, R1310C | Achondrogenesis type II, not provided | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48387611
- GRCh38:
- Chr12:47993828
| COL2A1 | A302V, A233V | Type II Collagenopathies, Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type,
Spondyloepiphyseal dysplasia, Stanescu type, Legg-Calve-Perthes disease, Spondyloperipheral dysplasia,
Spondyloepiphyseal dysplasia congenita, Czech dysplasia, metatarsal type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Kniest dysplasia, Stickler syndrome type 1Platyspondylic dysplasia, Torrance type,
Avascular necrosis of femoral head, primary, 1, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Namaqualand hip dysplasia,
Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, not provided, Abnormality of the skeletal system,
...see more | Pathogenic/Likely pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48371409
- GRCh38:
- Chr12:47977626
| COL2A1 | G1047S, G978S | not specified, Achondrogenesis type II | Likely pathogenic
(Aug 30, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48371825-48371842
- GRCh38:
- Chr12:47978042-47978059
| COL2A1 | | not provided | Likely pathogenic
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48372461
- GRCh38:
- Chr12:47978678
| COL2A1 | G939fs, G870fs | Achondrogenesis type II, not provided | Pathogenic
(Aug 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48370314
- GRCh38:
- Chr12:47976531
| COL2A1 | G1158R, G1089R | Achondrogenesis type II, Narrow chest, Disproportionate short-limb short stature
| Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48371881
- GRCh38:
- Chr12:47978098
| COL2A1 | G1008V, G939V | not provided, Absent vertebral body mineralization, Short ribs,
Achondrogenesis type II | Pathogenic
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48388220
- GRCh38:
- Chr12:47994437
| COL2A1 | P268L, P199L | Achondrogenesis type II, Czech dysplasia, metatarsal type, Stickler syndrome, type I, nonsyndromic ocular,
Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Kniest dysplasia,
Spondyloperipheral dysplasia, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasiaSpondylometaphyseal dysplasia,
Spondyloepiphyseal dysplasia congenita, Multiple epiphyseal dysplasia, Beighton type, Stickler syndrome type 1,
not provided, Type II Collagenopathies, ...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:
- Chr12:48377898
- 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 | | not provided, Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type,
Czech dysplasia, metatarsal type, Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Kniest dysplasia,
Spondyloperipheral dysplasia, Stickler syndrome type 1Platyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepimetaphyseal dysplasia, Strudwick type, Namaqualand hip dysplasia,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, not specified,
Stickler syndrome type 1, 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, Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type,
Czech dysplasia, metatarsal type, Stickler syndrome, type I, nonsyndromic ocular, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Kniest dysplasia,
Spondyloperipheral dysplasia, Stickler syndrome type 1Platyspondylic dysplasia, Torrance type,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepimetaphyseal dysplasia, Strudwick type, Namaqualand hip dysplasia,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1,
Connective tissue disorder, not specified, Type II Collagenopathies,
...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, 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 provided, Multiple epiphyseal dysplasia, Beighton type,
Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita, Achondrogenesis type II,
Stickler syndrome type 1, Kniest dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Stickler syndrome, type I, nonsyndromic ocular, Avascular necrosis of femoral head, primary, 1Czech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, Legg-Calve-Perthes disease,
Namaqualand hip dysplasia, Spondyloperipheral dysplasia, Platyspondylic dysplasia, Torrance type,
Type II Collagenopathies, Stickler syndrome type 1, not specified,
...see more | Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48379554
- GRCh38:
- Chr12:47985771
| COL2A1 | G477V, G546V | Achondrogenesis type II | Pathogenic
(Dec 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr12:48377504
- GRCh38:
- Chr12:47983721
| COL2A1 | R584*, R653* | Platyspondylic dysplasia, Torrance type, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Achondrogenesis type II,
Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Legg-Calve-Perthes disease,
Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia, Stanescu typeStickler syndrome, type I, nonsyndromic ocular,
Czech dysplasia, metatarsal type, Namaqualand hip dysplasia, not provided,
...see more | Pathogenic
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48379729
- GRCh38:
- Chr12:47985946
| COL2A1 | G447D, G516D | Achondrogenesis type II | Pathogenic
(Apr 30, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr12:48379358
- GRCh38:
- Chr12:47985575
| COL2A1 | R496C, R565C | COL2A1-related disorders, Retinal dystrophy, not provided,
Achondrogenesis type II, Stickler syndrome, type I, nonsyndromic ocular, Stickler syndrome type 1
| Pathogenic/Likely pathogenic
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48373800
- GRCh38:
- Chr12:47980017
| COL2A1 | G822R, G891R | Achondrogenesis type II | Pathogenic
(Feb 1, 1995) | no assertion criteria provided |
| - GRCh37:
- Chr12:48372172
- GRCh38:
- Chr12:47978389
| COL2A1 | G900S, G969S | Achondrogenesis type II | Pathogenic
(Jan 27, 1995) | no assertion criteria provided |
| - GRCh37:
- Chr12:48387824
- GRCh38:
- Chr12:47994041
| COL2A1 | R206C, R275C | Acetabular dysplasia, not provided, Stickler syndrome type 1,
Achondrogenesis type II, Czech dysplasia, metatarsal type | Pathogenic
(Jul 20, 2023) | 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 |