| - GRCh37:
- Chr12:48379750
- GRCh38:
- Chr12:47985967
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (Feb 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48390365
- GRCh38:
- Chr12:47996582
| COL2A1 | G123fs, G192fs | Stickler syndrome type 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48370666-48370667
- GRCh38:
- Chr12:47976883-47976884
| COL2A1 | G1053fs, G1122fs | Stickler syndrome type 1 | Pathogenic (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48378723-48378809
- GRCh38:
- Chr12:47984940-47985026
| COL2A1 | | Stickler syndrome type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48387770-48387772
- GRCh38:
- Chr12:47993987-47993989
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48376643-48376651
- GRCh38:
- Chr12:47982860-47982868
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48389540
- GRCh38:
- Chr12:47995757
| COL2A1 | Q152*, Q221* | not provided, Stickler syndrome type 1 | Conflicting interpretations of pathogenicity (Sep 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48374335
- GRCh38:
- Chr12:47980552
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48381060
- GRCh38:
- Chr12:47987277
| COL2A1 | G351*, G420* | Stickler syndrome type 1 | Pathogenic (May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48391408
- GRCh38:
- Chr12:47997625
| COL2A1 | G102fs, G171fs | Stickler syndrome type 1 | Pathogenic (May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48387286
- GRCh38:
- Chr12:47993503
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48372157
- GRCh38:
- Chr12:47978374
| COL2A1 | Q905fs, Q974fs | Stickler syndrome type 1 | Pathogenic (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48380641
- GRCh38:
- Chr12:47986858
| COL2A1 | E397*, E466* | Stickler syndrome type 1 | Pathogenic (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48392216
- GRCh38:
- Chr12:47998433
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (May 2, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:48383548
- GRCh38:
- Chr12:47989765
| COL2A1 | P286fs, P355fs | Stickler syndrome type 1 | Likely pathogenic (Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48391695
- GRCh38:
- Chr12:47997912
| COL2A1 | E130*, E61* | Stickler syndrome type 1 | Likely pathogenic (Sep 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48391652
- GRCh38:
- Chr12:47997869
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48377495
- GRCh38:
- Chr12:47983712
| COL2A1 | Q587*, Q656* | Stickler syndrome type 1 | Likely pathogenic (Oct 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48370588-48370591
- GRCh38:
- Chr12:47976805-47976808
| COL2A1 | | not provided, Stickler syndrome type 1, Marfan syndrome
| Conflicting interpretations of pathogenicity (Jun 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48372379
- GRCh38:
- Chr12:47978596
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48368104
- GRCh38:
- Chr12:47974321
| COL2A1 | G1293fs, G1362fs | Stickler syndrome type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48389704
- GRCh38:
- Chr12:47995921
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48390371
- GRCh38:
- Chr12:47996588
| COL2A1 | K121fs, K190fs | Stickler syndrome type 1 | Pathogenic (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48375581-48375599
- GRCh38:
- Chr12:47981798-47981816
| COL2A1 | P721fs, P790fs | Stickler syndrome type 1 | Likely pathogenic (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48389063
- GRCh38:
- Chr12:47995280
| COL2A1 | G177V, G246V | Stickler syndrome type 1 | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48380154
- GRCh38:
- Chr12:47986371
| COL2A1 | G429R, G498R | Stickler syndrome type 1 | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48368018
- GRCh38:
- Chr12:47974235
| COL2A1 | Y1322H, Y1391H | Stickler syndrome type 1 | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48380162
- GRCh38:
- Chr12:47986379
| COL2A1 | G426E, G495E | Stickler syndrome type 1 | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48379545
- GRCh38:
- Chr12:47985762
| COL2A1 | G480D, G549D | Stickler syndrome type 1 | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48379516-48379533
- GRCh38:
- Chr12:47985733-47985750
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48374443
- GRCh38:
- Chr12:47980660
| COL2A1 | G771D, G840D | Stickler syndrome type 1 | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - 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:
- Chr12:48371788
- 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:
- Chr12:48374353
- GRCh38:
- Chr12:47980570
| COL2A1 | G801E, G870E | not provided, Stickler syndrome type 1 | Pathogenic/Likely pathogenic (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr12:48376367
- GRCh38:
- Chr12:47982584
| COL2A1 | P740fs, P671fs | not provided, Stickler syndrome type 1 | Pathogenic (Jul 19, 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:
- Chr12:48374336
- GRCh38:
- Chr12:47980553
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48370932
- GRCh38:
- Chr12:47977149
| COL2A1 | Q1025*, Q1094* | Stickler syndrome type 1, not provided | Pathogenic (Jun 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48373308
- GRCh38:
- Chr12:47979525
| COL2A1 | P838S, P907S | Stickler syndrome type 1 | Uncertain significance (Nov 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48368457
- GRCh38:
- Chr12:47974674
| COL2A1 | | not provided, Stickler syndrome type 1 | Pathogenic (Jan 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367871
- GRCh38:
- Chr12:47974088
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (Feb 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48389653-48389654
- GRCh38:
- Chr12:47995870-47995871
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48378328
- GRCh38:
- Chr12:47984545
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48383543-48383544
- GRCh38:
- Chr12:47989760-47989761
| COL2A1 | G288fs, G357fs | Stickler syndrome type 1 | Likely pathogenic (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48368636
- GRCh38:
- Chr12:47974853
| COL2A1 | W1230*, W1299* | not provided, Stickler syndrome type 1 | Pathogenic (Dec 7, 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:
- Chr12:48374368
- GRCh38:
- Chr12:47980585
| COL2A1 | P796fs, P865fs | Stickler syndrome type 1 | Likely pathogenic (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48378785
- GRCh38:
- Chr12:47985002
| COL2A1 | G540V, G609V | not provided, Stickler syndrome type 1 | Likely pathogenic (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48374751
- GRCh38:
- Chr12:47980968
| COL2A1 | G753S, G822S | Stickler syndrome type 1 | Likely pathogenic (Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48372510-48372518
- GRCh38:
- Chr12:47978727-47978735
| COL2A1 | | not provided | Likely pathogenic (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48389695-48389719
- GRCh38:
- Chr12:47995912-47995936
| COL2A1 | | not provided, Stickler syndrome type 1 | Pathogenic/Likely pathogenic (Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48371103-48371106
- GRCh38:
- Chr12:47977320-47977323
| COL2A1 | E1021fs, E1090fs | Stickler syndrome type 1 | Pathogenic (May 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48393847
- GRCh38:
- Chr12:48000064
| COL2A1 | | not provided, Stickler syndrome type 1 | Benign/Likely benign (Jul 1, 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:
- Chr12:48369853
- GRCh38:
- Chr12:47976070
| COL2A1 | G1095S, G1164S | not provided, Stickler syndrome type 1 | Pathogenic (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372469
- GRCh38:
- Chr12:47978686
| COL2A1 | G867S, G936S | Stickler syndrome type 1, not provided | Conflicting interpretations of pathogenicity (Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48376920
- GRCh38:
- Chr12:47983137
| COL2A1 | G615C, G684C | not provided, Stickler syndrome type 1 | Uncertain significance (Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr12:48372413
- GRCh38:
- Chr12:47978630
| COL2A1 | | not provided, Stickler syndrome type 1 | Pathogenic/Likely pathogenic (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48371294-48371381
- GRCh38:
- Chr12:47977511-47977598
| COL2A1 | | Stickler syndrome type 1 | Likely pathogenic (Oct 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48373792-48373793
- GRCh38:
- Chr12:47980009-47980010
| COL2A1 | A826fs, A895fs | Stickler syndrome type 1, not provided | Pathogenic (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48369284
- GRCh38:
- Chr12:47975501
| COL2A1 | D1165E, D1234E | not provided, Stickler syndrome type 1 | Uncertain significance (Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr12:48389089
- GRCh38:
- Chr12:47995306
| COL2A1 | | Stickler syndrome type 1, not provided, Type II Collagenopathies
| Conflicting interpretations of pathogenicity (Sep 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48388245
- GRCh38:
- Chr12:47994462
| COL2A1 | P191S, P260S | Stickler syndrome type 1, Type II Collagenopathies | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48369323
- GRCh38:
- Chr12:47975540
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1, not provided
| Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48369273
- GRCh38:
- Chr12:47975490
| COL2A1 | Y1238S, Y1169S | Connective tissue disorder, Type II Collagenopathies, Stickler syndrome type 1, not provided | Conflicting interpretations of pathogenicity (Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48366859
- GRCh38:
- Chr12:47973076
| COL2A1 | | Stickler syndrome type 1, Type II Collagenopathies | Uncertain significance (Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48366817
- GRCh38:
- Chr12:47973034
| COL2A1 | | Stickler syndrome type 1, Type II Collagenopathies | Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48391409
- GRCh38:
- Chr12:47997626
| COL2A1 | G102R, G171R | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48387578
- GRCh38:
- Chr12:47993795
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48375192
- GRCh38:
- Chr12:47981409
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1, not provided
| Conflicting interpretations of pathogenicity (Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367863
- GRCh38:
- Chr12:47974080
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367304
- GRCh38:
- Chr12:47973521
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48391408
- GRCh38:
- Chr12:47997625
| COL2A1 | G102V, G171V | Type II Collagenopathies, Stickler syndrome type 1, Inborn genetic diseases
| Uncertain significance (May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48381477
- GRCh38:
- Chr12:47987694
| COL2A1 | T380A, T311A | Type II Collagenopathies, Stickler syndrome type 1 | Conflicting interpretations of pathogenicity (Apr 28, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48377461
- GRCh38:
- Chr12:47983678
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48373838
- GRCh38:
- Chr12:47980055
| COL2A1 | T878I, T809I | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48370904
- GRCh38:
- Chr12:47977121
| COL2A1 | A1034G, A1103G | Type II Collagenopathies, Stickler syndrome type 1, Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48368446
- GRCh38:
- Chr12:47974663
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1, not provided
| Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367206
- GRCh38:
- Chr12:47973423
| COL2A1 | P1483L, P1414L | Type II Collagenopathies, Stickler syndrome type 1, not provided
| Conflicting interpretations of pathogenicity (Jul 10, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48389479
- GRCh38:
- Chr12:47995696
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Conflicting interpretations of pathogenicity (Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48372470
- GRCh38:
- Chr12:47978687
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Conflicting interpretations of pathogenicity (Mar 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48369838
- GRCh38:
- Chr12:47976055
| COL2A1 | V1100I, V1169I | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48368096
- GRCh38:
- Chr12:47974313
| COL2A1 | N1365Y, N1296Y | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Conflicting interpretations of pathogenicity (Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48378777
- GRCh38:
- Chr12:47984994
| COL2A1 | | not provided, Stickler syndrome type 1, Retinal dystrophy
| Pathogenic (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372168
- GRCh38:
- Chr12:47978385
| COL2A1 | P970L, P901L | Connective tissue disorder, not provided, Type II Collagenopathies, Stickler syndrome type 1 | Conflicting interpretations of pathogenicity (Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48373812
- GRCh38:
- Chr12:47980029
| COL2A1 | R887*, R818* | Stickler syndrome type 1, not provided | Pathogenic/Likely pathogenic (Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr12:48369389
- GRCh38:
- Chr12:47975606
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (Jan 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48377492
- GRCh38:
- Chr12:47983709
| COL2A1 | G657S, G588S | Stickler syndrome type 1 | Likely pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48376447
- GRCh38:
- Chr12:47982664
| COL2A1 | | not provided, Stickler syndrome type 1 | Benign (May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48374366
- GRCh38:
- Chr12:47980583
| COL2A1 | Q797*, Q866* | Stickler syndrome type 1 | Likely pathogenic (May 28, 2019) | criteria provided, single submitter |