| - GRCh37:
- Chr6:33133489
- GRCh38:
- Chr6:33165712
| COL11A2 | | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13, not provided
| Likely benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33140894
- GRCh38:
- Chr6:33173117
| COL11A2 | | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13, not provided
| Likely benign (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33146259
- GRCh38:
- Chr6:33178482
| COL11A2 | T469A, T490A, T576A | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Conflicting interpretations of pathogenicity (Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143428
- GRCh38:
- Chr6:33175651
| COL11A2 | E681K, E767K, E660K | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53
| Uncertain significance (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33156836
- GRCh38:
- Chr6:33189059
| COL11A2 | R121H | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53
| Uncertain significance (Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141171
- GRCh38:
- Chr6:33173394
| COL11A2 | P790fs, P811fs, P897fs | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Likely pathogenic (Jul 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33148742
- GRCh38:
- Chr6:33180965
| COL11A2 | A300V, A321V, A407V | Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53, not provided
| Uncertain significance (Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33156921
- GRCh38:
- Chr6:33189144
| COL11A2 | R93C | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Uncertain significance (Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137183
- GRCh38:
- Chr6:33169406
| COL11A2 | D1152N, D1173N, D1259N | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137252
- GRCh38:
- Chr6:33169475
| COL11A2 | R1150C, R1129C, R1236C | not provided, Complete trisomy 21 syndrome, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160099
- GRCh38:
- Chr6:33192322
| COL11A2 | | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33146461
- GRCh38:
- Chr6:33178684
| COL11A2 | H486N, H465N, H572N | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Uncertain significance (Mar 19, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137180
- GRCh38:
- Chr6:33169403
| COL11A2 | D1153H, D1174H, D1260H | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33136297
- GRCh38:
- Chr6:33168520
| COL11A2 | R1213L, R1234L, R1320L | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Uncertain significance (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33133370
- GRCh38:
- Chr6:33165593
| COL11A2 | R1462H, R1483H, R1569H | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132753
- GRCh38:
- Chr6:33164976
| COL11A2 | | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132131
- GRCh38:
- Chr6:33164354
| COL11A2 | | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160096
- GRCh38:
- Chr6:33192319
| COL11A2 | | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33154580
- GRCh38:
- Chr6:33186803
| COL11A2 | | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33152788
- GRCh38:
- Chr6:33185011
| COL11A2 | L281H, L307H | Inborn genetic diseases, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141295
- GRCh38:
- Chr6:33173518
| COL11A2 | G803E, G782E, G889E | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33141285
- GRCh38:
- Chr6:33173508
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141999
- GRCh38:
- Chr6:33174222
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141949
- GRCh38:
- Chr6:33174172
| COL11A2 | G740A, G719A, G826A | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33137164
- GRCh38:
- Chr6:33169387
| COL11A2 | N1179S, N1158S, N1265S | Inborn genetic diseases, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2 | Uncertain significance (Jan 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33132715
- GRCh38:
- Chr6:33164938
| COL11A2 | G1593S, G1507S, G1486S | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2 | Uncertain significance (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33131062
- GRCh38:
- Chr6:33163285
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33157138
- GRCh38:
- Chr6:33189361
| COL11A2 | R64Q | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33130667
- GRCh38:
- Chr6:33162890
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33130636
- GRCh38:
- Chr6:33162859
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33139483
- GRCh38:
- Chr6:33171706
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Jan 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136354
- GRCh38:
- Chr6:33168577
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33134849
- GRCh38:
- Chr6:33167072
| COL11A2 | K1303E, K1324E, K1410E | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33134608
- GRCh38:
- Chr6:33166831
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33131026
- GRCh38:
- Chr6:33163249
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33130970
- GRCh38:
- Chr6:33163193
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33157107
- GRCh38:
- Chr6:33189330
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Jul 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33153558
- GRCh38:
- Chr6:33185781
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33148498
- GRCh38:
- Chr6:33180721
| COL11A2 | G304C, G325C, G411C | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33146478
- GRCh38:
- Chr6:33178701
| COL11A2 | L459R, L480R, L566R | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33145912
- GRCh38:
- Chr6:33178135
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33141707
- GRCh38:
- Chr6:33173930
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33146477
- GRCh38:
- Chr6:33178700
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48381486
- GRCh38:
- Chr12:47987703
| COL2A1 | A308T, A377T | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:33133725
- GRCh38:
- Chr6:33165948
| COL11A2 | G1382S, G1403S, G1489S | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48369272
- GRCh38:
- Chr12:47975489
| COL2A1 | Y1169*, Y1238* | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:33156166
- GRCh38:
- Chr6:33188389
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Jul 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33152865
- GRCh38:
- Chr6:33185088
| COL11A2 | | not provided, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Benign (Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33134392
- GRCh38:
- Chr6:33166615
| COL11A2 | | not provided, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Benign (Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33136575
- GRCh38:
- Chr6:33168798
| COL11A2 | | not provided, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Benign (Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33143807
- GRCh38:
- Chr6:33176030
| COL11A2 | V752M, V645M, V666M | Connective tissue disorder, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not specified, Fibrochondrogenesis 2
| Conflicting interpretations of pathogenicity (Dec 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33154574
- GRCh38:
- Chr6:33186797
| COL11A2 | I210V | Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143841
- GRCh38:
- Chr6:33176064
| COL11A2 | | Connective tissue disorder, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided | Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160038
- GRCh38:
- Chr6:33192261
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not specified, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Mar 5, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141152
- GRCh38:
- Chr6:33173375
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33134834
- GRCh38:
- Chr6:33167057
| COL11A2 | | Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33131582
- GRCh38:
- Chr6:33163805
| COL11A2 | R1695Q, R1609Q, R1588Q | Fibrochondrogenesis 2, not provided, not specified, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33131578
- GRCh38:
- Chr6:33163801
| COL11A2 | | Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not specified, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33156158
- GRCh38:
- Chr6:33188381
| COL11A2 | L196P | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity (Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33154337
- GRCh38:
- Chr6:33186560
| COL11A2 | P289S | not provided | Uncertain significance (Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33139582
- GRCh38:
- Chr6:33171805
| COL11A2 | R1020*, R934*, R913* | Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Likely pathogenic (May 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33139071
- GRCh38:
- Chr6:33171294
| COL11A2 | T1097P, T990P, T1011P | Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Conflicting interpretations of pathogenicity (Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160258
- GRCh38:
- Chr6:33192481
| COL11A2 | | Fibrochondrogenesis 1, Nonsyndromic Hearing Loss, Dominant, Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33160243
- GRCh38:
- Chr6:33192466
| COL11A2 | | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33160217
- GRCh38:
- Chr6:33192440
| COL11A2 | | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign/Likely benign (Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33160191
- GRCh38:
- Chr6:33192414
| COL11A2 | | Stickler Syndrome, Dominant, not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign (Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33160109
- GRCh38:
- Chr6:33192332
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33160013
- GRCh38:
- Chr6:33192236
| COL11A2 | E2G | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity (Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33156292
- GRCh38:
- Chr6:33188515
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity (Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33153524
- GRCh38:
- Chr6:33185747
| COL11A2 | P277H | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33152769
- GRCh38:
- Chr6:33184992
| COL11A2 | E313D, E287D | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33148889
- GRCh38:
- Chr6:33181112
| COL11A2 | P393L, P286L, P307L | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Uncertain significance (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33148754
- GRCh38:
- Chr6:33180977
| COL11A2 | P403L, P296L, P317L | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, not specified, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33147561
- GRCh38:
- Chr6:33179784
| COL11A2 | G461C, G354C, G375C | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33146070
- GRCh38:
- Chr6:33178293
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (May 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33145497
- GRCh38:
- Chr6:33177720
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign/Likely benign (Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33144785
- GRCh38:
- Chr6:33177008
| COL11A2 | G685A, G578A, G599A | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33144068
- GRCh38:
- Chr6:33176291
| COL11A2 | I728F, I621F, I642F | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, not specified, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143857
- GRCh38:
- Chr6:33176080
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143456
- GRCh38:
- Chr6:33175679
| COL11A2 | | not provided, Connective tissue disorder, Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity (Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33142318
- GRCh38:
- Chr6:33174541
| COL11A2 | R806C, R699C, R720C | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity (Dec 12, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141177
- GRCh38:
- Chr6:33173400
| COL11A2 | G895A, G788A, G809A | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity (Mar 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141126
- GRCh38:
- Chr6:33173349
| COL11A2 | V912A, V805A, V826A | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity (Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33140357
- GRCh38:
- Chr6:33172580
| COL11A2 | P950S, P843S, P864S | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Uncertain significance (Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33139548
- GRCh38:
- Chr6:33171771
| COL11A2 | P1031L, P945L, P924L | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity (Apr 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33139093
- GRCh38:
- Chr6:33171316
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity (Jun 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33138929
- GRCh38:
- Chr6:33171152
| COL11A2 | P1110S, P1003S, P1024S | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity (Jan 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33138691
- GRCh38:
- Chr6:33170914
| COL11A2 | A1124T, A1017T, A1038T | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33137882
- GRCh38:
- Chr6:33170105
| COL11A2 | | Connective tissue disorder, Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not specified, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137644
- GRCh38:
- Chr6:33169867
| COL11A2 | | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not specified, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33137233
- GRCh38:
- Chr6:33169456
| COL11A2 | S1242L, S1135L, S1156L | Inborn genetic diseases, Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not specified, not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136734
- GRCh38:
- Chr6:33168957
| COL11A2 | R1284W, R1177W, R1198W | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity (Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136506
- GRCh38:
- Chr6:33168729
| COL11A2 | E1295K, E1188K, E1209K | Stickler Syndrome, Dominant, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity (Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33135245
- GRCh38:
- Chr6:33167468
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33134570
- GRCh38:
- Chr6:33166793
| COL11A2 | P1422L, P1315L, P1336L | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, not specified, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Benign/Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33133490
- GRCh38:
- Chr6:33165713
| COL11A2 | P1529L, P1422L, P1443L | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity (Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33133425
- GRCh38:
- Chr6:33165648
| COL11A2 | R1551W, R1465W, R1444W | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, not specified, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132242
- GRCh38:
- Chr6:33164465
| COL11A2 | | Nonsyndromic Hearing Loss, Dominant, Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, not specified, Fibrochondrogenesis 1, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33132163
- GRCh38:
- Chr6:33164386
| COL11A2 | V1651I, V1544I, V1565I | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance (Oct 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33131336
- GRCh38:
- Chr6:33163559
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Likely benign (Jan 13, 2018) | criteria provided, single submitter |