| - GRCh37:
- Chr6:33134541
- GRCh38:
- Chr6:33166764
| COL11A2 | G1325*, G1346*, G1432* | Autosomal recessive nonsyndromic hearing loss 53 | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - 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:
- Chr6:33148742
- 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:
- Chr6:33133526
- GRCh38:
- Chr6:33165749
| COL11A2 | D1410G, D1431G, D1517G | not provided, Autosomal recessive nonsyndromic hearing loss 53 | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33138676
- GRCh38:
- Chr6:33170899
| COL11A2 | G1129R, G1022R, G1043R | not provided, Autosomal recessive nonsyndromic hearing loss 53 | Pathogenic/Likely pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33152072-33152073
- GRCh38:
- Chr6:33184295-33184296
| COL11A2 | A324fs | Autosomal recessive nonsyndromic hearing loss 53 | Likely pathogenic
(May 7, 2018) | 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 | | 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:
- Chr6:33140873
- GRCh38:
- Chr6:33173096
| COL11A2 | G812fs, G833fs, G919fs | Autosomal recessive nonsyndromic hearing loss 53 | Likely pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - 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:
- Chr6:33152074-33152075
- GRCh38:
- Chr6:33184297-33184298
| COL11A2 | T323fs | Short long bone, Thickened nuchal skin fold, Heart, malformation of,
Cystic hygroma, not specified, COL11A2-Related Disorders,
not provided, Ear malformation, Autosomal recessive nonsyndromic hearing loss 53
| Conflicting interpretations of pathogenicity
(Jan 17, 2023) | 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:
- Chr6:33136506
- 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:
- Chr6:33141253
- GRCh38:
- Chr6:33173476
| COL11A2 | | not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not specified, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Autosomal dominant nonsyndromic hearing loss 13 | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33141920
- GRCh38:
- Chr6:33174143
| COL11A2 | | not specified, Fibrochondrogenesis 2, not provided,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53,
Otospondylomegaepiphyseal dysplasia, autosomal dominant | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33138677
- GRCh38:
- Chr6:33170900
| COL11A2 | | Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal dominant, not specified,
not provided, Fibrochondrogenesis 2, Autosomal dominant nonsyndromic hearing loss 13,
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive | 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,
not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Connective tissue disorder,
not specified, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33141299
- GRCh38:
- Chr6:33173522
| COL11A2 | P888T, P781T, P802T | Autosomal recessive nonsyndromic hearing loss 53 | Pathogenic
(Jan 30, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr6:33152819
- GRCh38:
- Chr6:33185042
| COL11A2 | G297S, G271S | Connective tissue disorder, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
not specified, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Autosomal dominant nonsyndromic hearing loss 13 | 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 dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33132693
- GRCh38:
- Chr6:33164916
| COL11A2 | R1600Q, R1514Q, R1493Q | Connective tissue disorder, Stickler Syndrome, Dominant, 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,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessiveOtospondylomegaepiphyseal dysplasia, autosomal dominant,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33132114
- GRCh38:
- Chr6:33164337
| COL11A2 | R1667H, R1581H, R1560H | Connective tissue disorder, Stickler Syndrome, Dominant, not specified,
not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 53 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33144064
- GRCh38:
- Chr6:33176287
| COL11A2 | R729Q, R622Q, R643Q | Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13,
not provided, not specified, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive ...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33135285
- GRCh38:
- Chr6:33167508
| COL11A2 | P1347Q, P1261Q, P1240Q | 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 | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33157220
- GRCh38:
- Chr6:33189443
| COL11A2 | A37S | Autosomal recessive nonsyndromic hearing loss 53, Nonsyndromic Deafness | Pathogenic
(Jan 30, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr6:33152835
- GRCh38:
- Chr6:33185058
| COL11A2 | | Fibrochondrogenesis 2, Connective tissue disorder, Stickler Syndrome, Dominant,
not provided, not specified, 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 provided, not specified,
Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 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 | | 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:
- Chr6:33139475
- GRCh38:
- Chr6:33171698
| 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:
- Chr6:33141161
- GRCh38:
- Chr6:33173384
| 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:
- Chr6:33141475
- GRCh38:
- Chr6:33173698
| COL11A2 | | Stickler Syndrome, Dominant, not specified, not provided,
Fibrochondrogenesis 2, 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:
- Chr6:33144243
- GRCh38:
- Chr6:33176466
| 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:
- Chr6:33147589
- GRCh38:
- Chr6:33179812
| 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:
- Chr6:33145920
- GRCh38:
- Chr6:33178143
| COL11A2 | P621T, P514T, P535T | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 53,
Hearing impairment | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:33135599
- GRCh38:
- Chr6:33167822
| COL11A2 | R1224*, R1245*, R1331* | Autosomal dominant nonsyndromic hearing loss 13, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided
| Pathogenic
(Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |