| - GRCh37:
- Chr6:33148936-33148937
- GRCh38:
- Chr6:33181159-33181160
| COL11A2 | P271fs, P292fs, P378fs | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance
(Jun 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33138099
- GRCh38:
- Chr6:33170322
| COL11A2 | | not provided | Uncertain significance
(Jun 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33133489
- GRCh38:
- Chr6:33165712
| COL11A2 | | Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33140894
- GRCh38:
- Chr6:33173117
| COL11A2 | | Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, 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, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53
| Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143428
- GRCh38:
- Chr6:33175651
| COL11A2 | E681K, E767K, E660K | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53, not provided
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33156836
- GRCh38:
- Chr6:33189059
| COL11A2 | R121H | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53, not provided
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141171
- 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 | not provided, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33156921
- GRCh38:
- Chr6:33189144
| COL11A2 | R93C | not provided, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2
| Uncertain significance
(Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137183
- GRCh38:
- Chr6:33169406
| COL11A2 | D1152N, D1173N, D1259N | Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2, not provided
| Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137252
- GRCh38:
- Chr6:33169475
| COL11A2 | R1150C, R1129C, R1236C | Complete trisomy 21 syndrome, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided | Conflicting interpretations of pathogenicity
(Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160099
- GRCh38:
- Chr6:33192322
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33146461
- GRCh38:
- Chr6:33178684
| COL11A2 | H486N, H465N, H572N | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance
(Mar 19, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137180
- GRCh38:
- Chr6:33169403
| COL11A2 | D1153H, D1174H, D1260H | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33136297
- GRCh38:
- Chr6:33168520
| COL11A2 | R1213L, R1234L, R1320L | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided | Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33133370
- GRCh38:
- Chr6:33165593
| COL11A2 | R1462H, R1483H, R1569H | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132753
- GRCh38:
- Chr6:33164976
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132131
- GRCh38:
- Chr6:33164354
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160096
- GRCh38:
- Chr6:33192319
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33154580
- GRCh38:
- Chr6:33186803
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
not provided | 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 recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141295
- GRCh38:
- Chr6:33173518
| COL11A2 | G803E, G782E, G889E | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33141285
- GRCh38:
- Chr6:33173508
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141999
- GRCh38:
- Chr6:33174222
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | 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, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| 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 | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided | 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, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33130667
- GRCh38:
- Chr6:33162890
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33130636
- GRCh38:
- Chr6:33162859
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33139483
- GRCh38:
- Chr6:33171706
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Jan 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136354
- GRCh38:
- Chr6:33168577
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33134849
- GRCh38:
- Chr6:33167072
| COL11A2 | K1303E, K1324E, K1410E | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33134608
- GRCh38:
- Chr6:33166831
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| 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 recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33157107
- GRCh38:
- Chr6:33189330
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Jul 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33153558
- GRCh38:
- Chr6:33185781
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33148498
- GRCh38:
- Chr6:33180721
| COL11A2 | G304C, G325C, G411C | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33146478
- GRCh38:
- Chr6:33178701
| COL11A2 | L459R, L480R, L566R | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33145912
- GRCh38:
- Chr6:33178135
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33141707
- GRCh38:
- Chr6:33173930
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33146477
- GRCh38:
- Chr6:33178700
| COL11A2 | | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | 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 recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Jul 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33152865
- GRCh38:
- Chr6:33185088
| COL11A2 | | not provided, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33134392
- GRCh38:
- Chr6:33166615
| COL11A2 | | not provided, Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33136575
- GRCh38:
- Chr6:33168798
| COL11A2 | | not provided, Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33143807
- GRCh38:
- Chr6:33176030
| COL11A2 | V752M, V645M, V666M | Fibrochondrogenesis 2, not provided, Connective tissue disorder,
not specified, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity
(Sep 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33154574
- GRCh38:
- Chr6:33186797
| COL11A2 | I210V | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143841
- GRCh38:
- Chr6:33176064
| COL11A2 | | not provided, Connective tissue disorder, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160038
- GRCh38:
- Chr6:33192261
| COL11A2 | | not specified, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Mar 5, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141152
- GRCh38:
- Chr6:33173375
| COL11A2 | | Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33134834
- GRCh38:
- Chr6:33167057
| COL11A2 | | Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13,
Fibrochondrogenesis 2, 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 | not specified, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided | Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33131578
- GRCh38:
- Chr6:33163801
| COL11A2 | | not specified, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33156158
- 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 recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13,
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, Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided
| Conflicting interpretations of pathogenicity
(Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33160258
- GRCh38:
- Chr6:33192481
| COL11A2 | | Nonsyndromic Hearing Loss, Dominant, Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 1 | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33160243
- GRCh38:
- Chr6:33192466
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33160217
- GRCh38:
- Chr6:33192440
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Benign/Likely benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33160191
- GRCh38:
- Chr6:33192414
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33160109
- GRCh38:
- Chr6:33192332
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33160013
- GRCh38:
- Chr6:33192236
| COL11A2 | E2G | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33156292
- GRCh38:
- Chr6:33188515
| COL11A2 | | Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33153524
- GRCh38:
- Chr6:33185747
| COL11A2 | P277H | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33152769
- GRCh38:
- Chr6:33184992
| COL11A2 | E313D, E287D | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33148889
- GRCh38:
- Chr6:33181112
| COL11A2 | P393L, P286L, P307L | Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant | Uncertain significance
(Jun 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33148754
- GRCh38:
- Chr6:33180977
| COL11A2 | P403L, P296L, P317L | Fibrochondrogenesis 2, not specified, not provided,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33147561
- GRCh38:
- Chr6:33179784
| COL11A2 | G461C, G354C, G375C | Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33146070
- GRCh38:
- Chr6:33178293
| COL11A2 | | Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant | Conflicting interpretations of pathogenicity
(May 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33145497
- GRCh38:
- Chr6:33177720
| COL11A2 | | Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant | Benign/Likely benign
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33144785
- GRCh38:
- Chr6:33177008
| COL11A2 | G685A, G578A, G599A | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33144068
- GRCh38:
- Chr6:33176291
| COL11A2 | I728F, I621F, I642F | not specified, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143857
- GRCh38:
- Chr6:33176080
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143456
- GRCh38:
- Chr6:33175679
| COL11A2 | | not provided, Connective tissue disorder, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant
| Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33142318
- GRCh38:
- Chr6:33174541
| COL11A2 | R806C, R699C, R720C | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Dec 12, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141177
- GRCh38:
- Chr6:33173400
| COL11A2 | G895A, G788A, G809A | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Mar 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141126
- GRCh38:
- Chr6:33173349
| COL11A2 | V912A, V805A, V826A | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Jul 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33140357
- GRCh38:
- Chr6:33172580
| COL11A2 | P950S, P843S, P864S | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Uncertain significance
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33139548
- GRCh38:
- Chr6:33171771
| COL11A2 | P1031L, P945L, P924L | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Apr 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33139093
- GRCh38:
- Chr6:33171316
| COL11A2 | | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Jun 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33138929
- GRCh38:
- Chr6:33171152
| COL11A2 | P1110S, P1003S, P1024S | Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2 | Conflicting interpretations of pathogenicity
(Jan 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33138691
- GRCh38:
- Chr6:33170914
| COL11A2 | A1124T, A1017T, A1038T | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33137882
- GRCh38:
- Chr6:33170105
| COL11A2 | | not specified, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Connective tissue disorder, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137644
- GRCh38:
- Chr6:33169867
| COL11A2 | | Fibrochondrogenesis 2, not specified, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33137233
- GRCh38:
- Chr6:33169456
| COL11A2 | S1242L, S1135L, S1156L | Fibrochondrogenesis 2, not specified, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jul 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136734
- GRCh38:
- Chr6:33168957
| COL11A2 | R1284W, R1177W, R1198W | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136506
- GRCh38:
- Chr6:33168729
| COL11A2 | E1295K, E1188K, E1209K | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53,
Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33135245
- GRCh38:
- Chr6:33167468
| COL11A2 | | not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Fibrochondrogenesis 2, Stickler Syndrome, Dominant | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33134570
- GRCh38:
- Chr6:33166793
| COL11A2 | P1422L, P1315L, P1336L | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not specified,
not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33133490
- GRCh38:
- Chr6:33165713
| COL11A2 | P1529L, P1422L, P1443L | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33133425
- GRCh38:
- Chr6:33165648
| COL11A2 | R1551W, R1465W, R1444W | Fibrochondrogenesis 2, not specified, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132242
- GRCh38:
- Chr6:33164465
| COL11A2 | | not specified, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Nonsyndromic Hearing Loss, Dominant,
not provided, Fibrochondrogenesis 1, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |