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Items: 1 to 100 of 177

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr6:33133489
GRCh38:
Chr6:33165712
COL11A2Fibrochondrogenesis 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
2.
GRCh37:
Chr6:33140894
GRCh38:
Chr6:33173117
COL11A2Fibrochondrogenesis 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
3.
GRCh37:
Chr6:33146259
GRCh38:
Chr6:33178482
COL11A2T469A, T490A, T576Anot 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
4.
GRCh37:
Chr6:33143428
GRCh38:
Chr6:33175651
COL11A2E681K, E767K, E660Knot 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
5.
GRCh37:
Chr6:33156836
GRCh38:
Chr6:33189059
COL11A2R121Hnot 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
6.
GRCh37:
Chr6:33141171
GRCh38:
Chr6:33173394
COL11A2P790fs, P811fs, P897fsOtospondylomegaepiphyseal dysplasia, autosomal dominantLikely pathogenic
(Jul 4, 2019)		criteria provided, single submitter
7.
GRCh37:
Chr6:33148742
GRCh38:
Chr6:33180965
COL11A2A300V, A321V, A407VFibrochondrogenesis 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
8.
GRCh37:
Chr6:33156921
GRCh38:
Chr6:33189144
COL11A2R93CFibrochondrogenesis 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
9.
GRCh37:
Chr6:33137183
GRCh38:
Chr6:33169406
COL11A2D1152N, D1173N, D1259Nnot 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
10.
GRCh37:
Chr6:33137252
GRCh38:
Chr6:33169475
COL11A2R1150C, R1129C, R1236Cnot 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
11.
GRCh37:
Chr6:33160099
GRCh38:
Chr6:33192322
COL11A2Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
12.
GRCh37:
Chr6:33146461
GRCh38:
Chr6:33178684
COL11A2H486N, H465N, H572Nnot provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Uncertain significance
(Mar 19, 2019)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr6:33137180
GRCh38:
Chr6:33169403
COL11A2D1153H, D1174H, D1260HFibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr6:33136297
GRCh38:
Chr6:33168520
COL11A2R1213L, R1234L, R1320Lnot provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Uncertain significance
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:33133370
GRCh38:
Chr6:33165593
COL11A2R1462H, R1483H, R1569Hnot provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr6:33132753
GRCh38:
Chr6:33164976
COL11A2not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Conflicting interpretations of pathogenicity
(Oct 23, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr6:33132131
GRCh38:
Chr6:33164354
COL11A2not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr6:33160096
GRCh38:
Chr6:33192319
COL11A2Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr6:33154580
GRCh38:
Chr6:33186803
COL11A2not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Conflicting interpretations of pathogenicity
(Oct 15, 2022)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr6:33152788
GRCh38:
Chr6:33185011
COL11A2L281H, L307HInborn genetic diseases, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr6:33141295
GRCh38:
Chr6:33173518
COL11A2G803E, G782E, G889EFibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr6:33141285
GRCh38:
Chr6:33173508
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive		Conflicting interpretations of pathogenicity
(Sep 6, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr6:33141999
GRCh38:
Chr6:33174222
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Sep 26, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr6:33141949
GRCh38:
Chr6:33174172
COL11A2G740A, G719A, G826AOtospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr6:33137164
GRCh38:
Chr6:33169387
COL11A2N1179S, N1158S, N1265SInborn genetic diseases, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2		Uncertain significance
(Jan 10, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:33132715
GRCh38:
Chr6:33164938
COL11A2G1593S, G1507S, G1486Snot provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2		Uncertain significance
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr6:33131062
GRCh38:
Chr6:33163285
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr6:33157138
GRCh38:
Chr6:33189361
COL11A2R64Qnot provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr6:33130667
GRCh38:
Chr6:33162890
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr6:33130636
GRCh38:
Chr6:33162859
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
31.
GRCh37:
Chr6:33139483
GRCh38:
Chr6:33171706
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Jan 13, 2021)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr6:33136354
GRCh38:
Chr6:33168577
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr6:33134849
GRCh38:
Chr6:33167072
COL11A2K1303E, K1324E, K1410EOtospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr6:33134608
GRCh38:
Chr6:33166831
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr6:33131026
GRCh38:
Chr6:33163249
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr6:33130970
GRCh38:
Chr6:33163193
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr6:33157107
GRCh38:
Chr6:33189330
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Jul 4, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr6:33153558
GRCh38:
Chr6:33185781
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr6:33148498
GRCh38:
Chr6:33180721
COL11A2G304C, G325C, G411COtospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr6:33146478
GRCh38:
Chr6:33178701
COL11A2L459R, L480R, L566ROtospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr6:33145912
GRCh38:
Chr6:33178135
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr6:33141707
GRCh38:
Chr6:33173930
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr6:33146477
GRCh38:
Chr6:33178700
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr12:48381486
GRCh38:
Chr12:47987703
COL2A1A308T, A377TOtospondylomegaepiphyseal dysplasia, autosomal dominantPathogeniccriteria provided, single submitter
45.
GRCh37:
Chr6:33133725
GRCh38:
Chr6:33165948
COL11A2G1382S, G1403S, G1489SOtospondylomegaepiphyseal dysplasia, autosomal dominantPathogeniccriteria provided, single submitter
46.
GRCh37:
Chr12:48369272
GRCh38:
Chr12:47975489
COL2A1Y1169*, Y1238*Otospondylomegaepiphyseal dysplasia, autosomal dominantPathogeniccriteria provided, single submitter
47.
GRCh37:
Chr6:33156166
GRCh38:
Chr6:33188389
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Jul 21, 2022)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr6:33152865
GRCh38:
Chr6:33185088
COL11A2not 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
49.
GRCh37:
Chr6:33134392
GRCh38:
Chr6:33166615
COL11A2not 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
50.
GRCh37:
Chr6:33136575
GRCh38:
Chr6:33168798
COL11A2not 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
51.
GRCh37:
Chr6:33143807
GRCh38:
Chr6:33176030
COL11A2V752M, V645M, V666MConnective 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
52.
GRCh37:
Chr6:33154574
GRCh38:
Chr6:33186797
COL11A2I210VOtospondylomegaepiphyseal dysplasia, autosomal dominant, not providedConflicting interpretations of pathogenicity
(Aug 9, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr6:33143841
GRCh38:
Chr6:33176064
COL11A2Connective 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
54.
GRCh37:
Chr6:33160038
GRCh38:
Chr6:33192261
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not specified,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Mar 5, 2018)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr6:33141152
GRCh38:
Chr6:33173375
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided,
Fibrochondrogenesis 2		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr6:33134834
GRCh38:
Chr6:33167057
COL11A2Autosomal 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
57.
GRCh37:
Chr6:33131582
GRCh38:
Chr6:33163805
COL11A2R1695Q, R1609Q, R1588QFibrochondrogenesis 2, not provided, not specified,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive		Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr6:33131578
GRCh38:
Chr6:33163801
COL11A2Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
not specified, Otospondylomegaepiphyseal dysplasia, autosomal dominant		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr6:33156158
GRCh38:
Chr6:33188381
COL11A2L196Pnot provided, Otospondylomegaepiphyseal dysplasia, autosomal dominantConflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr6:33154337
GRCh38:
Chr6:33186560
COL11A2P289Snot providedUncertain significance
(Dec 10, 2021)		criteria provided, single submitter
61.
GRCh37:
Chr6:33139582
GRCh38:
Chr6:33171805
COL11A2R1020*, 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
62.
GRCh37:
Chr6:33139071
GRCh38:
Chr6:33171294
COL11A2T1097P, T990P, T1011PAutosomal 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
63.
GRCh37:
Chr6:33160258
GRCh38:
Chr6:33192481
COL11A2Fibrochondrogenesis 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
64.
GRCh37:
Chr6:33160243
GRCh38:
Chr6:33192466
COL11A2Stickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr6:33160217
GRCh38:
Chr6:33192440
COL11A2Stickler 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
66.
GRCh37:
Chr6:33160191
GRCh38:
Chr6:33192414
COL11A2Stickler Syndrome, Dominant, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant		Benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr6:33160109
GRCh38:
Chr6:33192332
COL11A2Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr6:33160013
GRCh38:
Chr6:33192236
COL11A2E2GStickler 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
69.
GRCh37:
Chr6:33156292
GRCh38:
Chr6:33188515
COL11A2Stickler 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
70.
GRCh37:
Chr6:33153524
GRCh38:
Chr6:33185747
COL11A2P277HStickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr6:33152769
GRCh38:
Chr6:33184992
COL11A2E313D, E287DStickler Syndrome, Dominant, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr6:33148889
GRCh38:
Chr6:33181112
COL11A2P393L, P286L, P307LStickler 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
73.
GRCh37:
Chr6:33148754
GRCh38:
Chr6:33180977
COL11A2P403L, P296L, P317LStickler 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
74.
GRCh37:
Chr6:33147561
GRCh38:
Chr6:33179784
COL11A2G461C, G354C, G375CStickler 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
75.
GRCh37:
Chr6:33146070
GRCh38:
Chr6:33178293
COL11A2Stickler 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
76.
GRCh37:
Chr6:33145497
GRCh38:
Chr6:33177720
COL11A2Stickler 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
77.
GRCh37:
Chr6:33144785
GRCh38:
Chr6:33177008
COL11A2G685A, G578A, G599AStickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr6:33144068
GRCh38:
Chr6:33176291
COL11A2I728F, I621F, I642FStickler 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
79.
GRCh37:
Chr6:33143857
GRCh38:
Chr6:33176080
COL11A2Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr6:33143456
GRCh38:
Chr6:33175679
COL11A2not 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
81.
GRCh37:
Chr6:33142318
GRCh38:
Chr6:33174541
COL11A2R806C, R699C, R720CStickler 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
82.
GRCh37:
Chr6:33141177
GRCh38:
Chr6:33173400
COL11A2G895A, G788A, G809AStickler 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
83.
GRCh37:
Chr6:33141126
GRCh38:
Chr6:33173349
COL11A2V912A, V805A, V826AStickler 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
84.
GRCh37:
Chr6:33140357
GRCh38:
Chr6:33172580
COL11A2P950S, P843S, P864SStickler 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
85.
GRCh37:
Chr6:33139548
GRCh38:
Chr6:33171771
COL11A2P1031L, P945L, P924LStickler 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
86.
GRCh37:
Chr6:33139093
GRCh38:
Chr6:33171316
COL11A2Stickler 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
87.
GRCh37:
Chr6:33138929
GRCh38:
Chr6:33171152
COL11A2P1110S, P1003S, P1024SStickler 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
88.
GRCh37:
Chr6:33138691
GRCh38:
Chr6:33170914
COL11A2A1124T, A1017T, A1038TStickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr6:33137882
GRCh38:
Chr6:33170105
COL11A2Connective 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
90.
GRCh37:
Chr6:33137644
GRCh38:
Chr6:33169867
COL11A2Stickler 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
91.
GRCh37:
Chr6:33137233
GRCh38:
Chr6:33169456
COL11A2S1242L, S1135L, S1156LInborn 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
92.
GRCh37:
Chr6:33136734
GRCh38:
Chr6:33168957
COL11A2R1284W, R1177W, R1198WStickler 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
93.
GRCh37:
Chr6:33136506
GRCh38:
Chr6:33168729
COL11A2E1295K, E1188K, E1209KStickler 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
94.
GRCh37:
Chr6:33135245
GRCh38:
Chr6:33167468
COL11A2not 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
95.
GRCh37:
Chr6:33134570
GRCh38:
Chr6:33166793
COL11A2P1422L, P1315L, P1336LStickler 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
96.
GRCh37:
Chr6:33133490
GRCh38:
Chr6:33165713
COL11A2P1529L, P1422L, P1443LStickler 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
97.
GRCh37:
Chr6:33133425
GRCh38:
Chr6:33165648
COL11A2R1551W, R1465W, R1444WStickler 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
98.
GRCh37:
Chr6:33132242
GRCh38:
Chr6:33164465
COL11A2Nonsyndromic 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
99.
GRCh37:
Chr6:33132163
GRCh38:
Chr6:33164386
COL11A2V1651I, V1544I, V1565IStickler 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
100.
GRCh37:
Chr6:33131336
GRCh38:
Chr6:33163559
COL11A2Stickler Syndrome, Dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant		Likely benign
(Jan 13, 2018)		criteria provided, single submitter
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