| - GRCh37:
- Chr6:33136731
- GRCh38:
- Chr6:33168954
| COL11A2 | | Autosomal dominant nonsyndromic hearing loss 13 | Likely pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33133489
- GRCh38:
- Chr6:33165712
| COL11A2 | | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33140894
- GRCh38:
- Chr6:33173117
| COL11A2 | | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33146259
- GRCh38:
- Chr6:33178482
| COL11A2 | T469A, T490A, T576A | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33139581
- GRCh38:
- Chr6:33171804
| COL11A2 | R913Q, R934Q, R1020Q | not provided, Autosomal dominant nonsyndromic hearing loss 13 | Conflicting interpretations of pathogenicity
(Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33143428
- GRCh38:
- Chr6:33175651
| COL11A2 | E681K, E767K, E660K | not provided, Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33156836
- GRCh38:
- Chr6:33189059
| COL11A2 | R121H | not provided, Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33139838
- GRCh38:
- Chr6:33172061
| COL11A2 | P1011T, P925T, P904T | Autosomal dominant nonsyndromic hearing loss 13, not provided | Uncertain significance
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33148742
- GRCh38:
- Chr6:33180965
| COL11A2 | A300V, A321V, A407V | not provided, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33156921
- GRCh38:
- Chr6:33189144
| COL11A2 | R93C | not provided, Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137183
- GRCh38:
- Chr6:33169406
| COL11A2 | D1152N, D1173N, D1259N | not provided, Autosomal recessive nonsyndromic hearing loss 53, Fibrochondrogenesis 2,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33147055
- GRCh38:
- Chr6:33179278
| COL11A2 | P418S, P504S, P397S | Autosomal dominant nonsyndromic hearing loss 13 | Uncertain significance
(Jan 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33136530
- GRCh38:
- Chr6:33168753
| COL11A2 | D1180H, D1201H, D1287H | not provided, Autosomal dominant nonsyndromic hearing loss 13 | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137622
- GRCh38:
- Chr6:33169845
| COL11A2 | E1119K, E1140K, E1226K | Autosomal dominant nonsyndromic hearing loss 13, Intellectual disability | Uncertain significance
(Aug 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33144251
- GRCh38:
- Chr6:33176474
| COL11A2 | P603S, P624S, P710S | Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Hearing impairment
| Uncertain significance
(Aug 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33152865
- GRCh38:
- Chr6:33185088
| COL11A2 | | Fibrochondrogenesis 2, not provided, 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:
- Chr6:33134392
- GRCh38:
- Chr6:33166615
| COL11A2 | | Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided, Autosomal recessive nonsyndromic hearing loss 53, 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 dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33157232
- GRCh38:
- Chr6:33189455
| COL11A2 | D33N | not provided, Autosomal dominant nonsyndromic hearing loss 13 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33134834
- GRCh38:
- Chr6:33167057
| COL11A2 | | Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33154337
- 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* | not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2
| Likely pathogenic
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33139071
- GRCh38:
- Chr6:33171294
| COL11A2 | T1097P, T990P, T1011P | Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, not provided
| Conflicting interpretations of pathogenicity
(Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136506
- GRCh38:
- Chr6:33168729
| COL11A2 | E1295K, E1188K, E1209K | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141253
- GRCh38:
- Chr6:33173476
| COL11A2 | | not provided, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not specified, Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53,
Otospondylomegaepiphyseal dysplasia, autosomal recessive | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141920
- GRCh38:
- Chr6:33174143
| COL11A2 | | not specified, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
not provided | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33138677
- GRCh38:
- Chr6:33170900
| COL11A2 | | Stickler Syndrome, Dominant, not specified, Fibrochondrogenesis 2,
not provided, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33154514
- GRCh38:
- Chr6:33186737
| COL11A2 | G230W | Stickler Syndrome, Dominant, Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13,
Connective tissue disorder, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not specified, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33152819
- GRCh38:
- Chr6:33185042
| COL11A2 | G297S, G271S | Connective tissue disorder, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13,
not specified, not provided, Autosomal dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Conflicting interpretations of pathogenicity
(Sep 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33140133
- GRCh38:
- Chr6:33172356
| COL11A2 | A974V, A867V, A888V | Connective tissue disorder, not specified, not provided,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33136324
- GRCh38:
- Chr6:33168547
| COL11A2 | N1311S, N1204S, N1225S | Stickler Syndrome, Dominant, not specified, not provided,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity
(Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132693
- GRCh38:
- Chr6:33164916
| COL11A2 | R1600Q, R1514Q, R1493Q | Stickler Syndrome, Dominant, Connective tissue disorder, Autosomal recessive nonsyndromic hearing loss 53,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, not specified, not provided,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominantOtospondylomegaepiphyseal dysplasia, autosomal recessive,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33144064
- GRCh38:
- Chr6:33176287
| COL11A2 | R729Q, R622Q, R643Q | Stickler Syndrome, Dominant, not specified, Autosomal recessive nonsyndromic hearing loss 53,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant ...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33135285
- GRCh38:
- Chr6:33167508
| COL11A2 | P1347Q, P1261Q, P1240Q | Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, not provided,
not specified | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33152835
- GRCh38:
- Chr6:33185058
| COL11A2 | | Stickler Syndrome, Dominant, Connective tissue disorder, not specified,
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
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33153528
- GRCh38:
- Chr6:33185751
| COL11A2 | E276K | Stickler Syndrome, Dominant, not specified, not provided,
Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33138955
- GRCh38:
- Chr6:33171178
| COL11A2 | | Stickler Syndrome, Dominant, not specified, not provided,
Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33139328
- GRCh38:
- Chr6:33171551
| COL11A2 | | not specified, Stickler Syndrome, Dominant, not provided,
Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33139475
- GRCh38:
- Chr6:33171698
| COL11A2 | | Stickler Syndrome, Dominant, not specified, not provided,
Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141161
- GRCh38:
- Chr6:33173384
| COL11A2 | | not specified, Stickler Syndrome, Dominant, not provided,
Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141475
- GRCh38:
- Chr6:33173698
| COL11A2 | | not specified, Stickler Syndrome, Dominant, not provided,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53,
Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33144243
- GRCh38:
- Chr6:33176466
| COL11A2 | | Stickler Syndrome, Dominant, not provided, not specified,
Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal recessive nonsyndromic hearing loss 53 | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33147589
- GRCh38:
- Chr6:33179812
| COL11A2 | | Stickler Syndrome, Dominant, not specified, not provided,
Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33135599
- GRCh38:
- Chr6:33167822
| COL11A2 | R1224*, R1245*, R1331* | Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, not provided
| Pathogenic
(Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33135082
- GRCh38:
- Chr6:33167305
| COL11A2 | R1272*, R1293*, R1379* | Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not provided
| Pathogenic/Likely pathogenic
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33142311
- GRCh38:
- Chr6:33174534
| COL11A2 | G701E, G722E, G808E | Autosomal dominant nonsyndromic hearing loss 13 | Pathogenic
(Dec 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr6:33139540
- GRCh38:
- Chr6:33171763
| COL11A2 | R1034C, R927C, R948C | Rare genetic deafness, not provided | Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |