| - 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 | | not provided, Kniest dysplasia, Legg-Calve-Perthes disease, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II, Spondyloperipheral dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Platyspondylic dysplasia, Torrance typeMultiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia congenita, Avascular necrosis of femoral head, primary, 1, Spondylometaphyseal dysplasia - Sutcliffe type, ...see more | Uncertain significance (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48372559
- GRCh38:
- Chr12:47978776
| COL2A1 | | not provided, Legg-Calve-Perthes disease, Kniest dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Spondylometaphyseal dysplasia - Sutcliffe typeStickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral 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, Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome type 1, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Avascular necrosis of femoral head, primary, 1Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II, ...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 | not provided, Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepiphyseal dysplasia, Stanescu type, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome type 1, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Avascular necrosis of femoral head, primary, 1Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II, ...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, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II, Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, Kniest dysplasia, Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, ...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 | | Stickler syndrome type 1, not provided | 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:
- Chr12:48393900
- GRCh38:
- Chr12:48000117
| COL2A1 | G32S | Stickler syndrome type 1 | Uncertain significance (Nov 3, 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* | Stickler syndrome type 1 | Pathogenic (Jun 4, 2021) | criteria provided, single submitter |
| - 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, Kniest dysplasia, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Spondyloperipheral dysplasia, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia, Stanescu type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance typeNamaqualand hip dysplasia, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, ...see more | Likely benign (Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367235
- GRCh38:
- Chr12:47973452
| COL2A1 | | not provided, Kniest dysplasia, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Spondyloperipheral dysplasia, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia, Stanescu type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance typeNamaqualand hip dysplasia, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, ...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, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Spondyloperipheral dysplasia, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia, Stanescu type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance typeNamaqualand hip dysplasia, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, 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 | | not provided, Kniest dysplasia, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Spondyloperipheral dysplasia, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia, Stanescu type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance typeNamaqualand hip dysplasia, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, ...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 | not provided, Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease, Kniest dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, Spondyloepimetaphyseal dysplasia, Strudwick type, Czech dysplasia, metatarsal type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance typeSpondyloepiphyseal dysplasia, Stanescu type, Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita, Achondrogenesis type II, Namaqualand hip dysplasia, Spondyloperipheral dysplasia, ...see more | Uncertain significance (Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48383555
- GRCh38:
- Chr12:47989772
| COL2A1 | A284T, A353T | not provided, Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease, Kniest dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, Spondyloepimetaphyseal dysplasia, Strudwick type, Czech dysplasia, metatarsal type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance typeSpondyloepiphyseal dysplasia, Stanescu type, Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita, Achondrogenesis type II, Namaqualand hip dysplasia, Spondyloperipheral dysplasia, ...see more | Conflicting interpretations of pathogenicity (Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48372413
- GRCh38:
- Chr12:47978630
| COL2A1 | | Stickler syndrome type 1, not provided | Pathogenic/Likely pathogenic (Oct 28, 2022) | 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, Spondyloepimetaphyseal dysplasia, Strudwick type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome, type I, nonsyndromic ocular, Legg-Calve-Perthes disease, Kniest dysplasia, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita, Czech dysplasia, metatarsal typeMultiple epiphyseal dysplasia, Beighton type, Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasia, Stickler syndrome type 1, Spondylometaphyseal dysplasia - Sutcliffe 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 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| 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, Retinal dystrophy, Stickler syndrome type 1
| 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 |
| - GRCh37:
- Chr12:48373791
- GRCh38:
- Chr12:47980008
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48373718-48373719
- GRCh38:
- Chr12:47979935-47979936
| COL2A1 | | not provided, Stickler syndrome type 1 | Benign (May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48371891
- GRCh38:
- Chr12:47978108
| COL2A1 | G936S, G1005S | Stickler syndrome type 1 | Likely pathogenic (May 28, 2019) | criteria provided, single submitter |