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Items: 1 to 100 of 179

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:33148936-33148937
GRCh38:
Chr6:33181159-33181160
COL11A2P271fs, P292fs, P378fsOtospondylomegaepiphyseal dysplasia, autosomal dominantUncertain significance
(Jun 13, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr6:33138099
GRCh38:
Chr6:33170322
COL11A2not providedUncertain significance
(Jun 5, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr6:33133489
GRCh38:
Chr6:33165712
COL11A2Autosomal 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
4.
GRCh37:
Chr6:33140894
GRCh38:
Chr6:33173117
COL11A2Autosomal 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
5.
GRCh37:
Chr6:33146259
GRCh38:
Chr6:33178482
COL11A2T469A, T490A, T576Anot 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
6.
GRCh37:
Chr6:33143428
GRCh38:
Chr6:33175651
COL11A2E681K, E767K, E660KOtospondylomegaepiphyseal 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
7.
GRCh37:
Chr6:33156836
GRCh38:
Chr6:33189059
COL11A2R121HOtospondylomegaepiphyseal 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
8.
GRCh37:
Chr6:33141171
GRCh38:
Chr6:33173394
COL11A2P790fs, P811fs, P897fsOtospondylomegaepiphyseal dysplasia, autosomal dominantLikely pathogenic
(Jul 4, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr6:33148742
GRCh38:
Chr6:33180965
COL11A2A300V, A321V, A407Vnot 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
10.
GRCh37:
Chr6:33156921
GRCh38:
Chr6:33189144
COL11A2R93Cnot 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
11.
GRCh37:
Chr6:33137183
GRCh38:
Chr6:33169406
COL11A2D1152N, D1173N, D1259NAutosomal 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
12.
GRCh37:
Chr6:33137252
GRCh38:
Chr6:33169475
COL11A2R1150C, R1129C, R1236CComplete 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
13.
GRCh37:
Chr6:33160099
GRCh38:
Chr6:33192322
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr6:33146461
GRCh38:
Chr6:33178684
COL11A2H486N, H465N, H572NOtospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Mar 19, 2019)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:33137180
GRCh38:
Chr6:33169403
COL11A2D1153H, D1174H, D1260HOtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr6:33136297
GRCh38:
Chr6:33168520
COL11A2R1213L, R1234L, R1320LOtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided
Uncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr6:33133370
GRCh38:
Chr6:33165593
COL11A2R1462H, R1483H, R1569HOtospondylomegaepiphyseal dysplasia, autosomal recessive, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr6:33132753
GRCh38:
Chr6:33164976
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr6:33132131
GRCh38:
Chr6:33164354
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr6:33160096
GRCh38:
Chr6:33192319
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr6:33154580
GRCh38:
Chr6:33186803
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Fibrochondrogenesis 2,
not provided
Conflicting interpretations of pathogenicity
(Oct 15, 2022)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr6:33152788
GRCh38:
Chr6:33185011
COL11A2L281H, L307HInborn genetic diseases, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:33141295
GRCh38:
Chr6:33173518
COL11A2G803E, G782E, G889EOtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:33141285
GRCh38:
Chr6:33173508
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Sep 6, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr6:33141999
GRCh38:
Chr6:33174222
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Sep 26, 2022)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr6:33141949
GRCh38:
Chr6:33174172
COL11A2G740A, G719A, G826AOtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
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
28.
GRCh37:
Chr6:33132715
GRCh38:
Chr6:33164938
COL11A2G1593S, G1507S, G1486SOtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
not provided
Uncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
29.
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
30.
GRCh37:
Chr6:33157138
GRCh38:
Chr6:33189361
COL11A2R64Qnot provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Oct 4, 2022)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr6:33130667
GRCh38:
Chr6:33162890
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr6:33130636
GRCh38:
Chr6:33162859
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr6:33139483
GRCh38:
Chr6:33171706
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Jan 13, 2021)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr6:33136354
GRCh38:
Chr6:33168577
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr6:33134849
GRCh38:
Chr6:33167072
COL11A2K1303E, K1324E, K1410EOtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr6:33134608
GRCh38:
Chr6:33166831
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
37.
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
38.
GRCh37:
Chr6:33130970
GRCh38:
Chr6:33163193
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr6:33157107
GRCh38:
Chr6:33189330
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Jul 4, 2022)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr6:33153558
GRCh38:
Chr6:33185781
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr6:33148498
GRCh38:
Chr6:33180721
COL11A2G304C, G325C, G411COtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr6:33146478
GRCh38:
Chr6:33178701
COL11A2L459R, L480R, L566ROtospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr6:33145912
GRCh38:
Chr6:33178135
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr6:33141707
GRCh38:
Chr6:33173930
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr6:33146477
GRCh38:
Chr6:33178700
COL11A2not provided, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr12:48381486
GRCh38:
Chr12:47987703
COL2A1A308T, A377TOtospondylomegaepiphyseal dysplasia, autosomal dominantPathogeniccriteria provided, single submitter
47.
GRCh37:
Chr6:33133725
GRCh38:
Chr6:33165948
COL11A2G1382S, G1403S, G1489SOtospondylomegaepiphyseal dysplasia, autosomal dominantPathogeniccriteria provided, single submitter
48.
GRCh37:
Chr12:48369272
GRCh38:
Chr12:47975489
COL2A1Y1169*, Y1238*Otospondylomegaepiphyseal dysplasia, autosomal dominantPathogeniccriteria provided, single submitter
49.
GRCh37:
Chr6:33156166
GRCh38:
Chr6:33188389
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Fibrochondrogenesis 2
Conflicting interpretations of pathogenicity
(Jul 21, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr6:33152865
GRCh38:
Chr6:33185088
COL11A2not 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
51.
GRCh37:
Chr6:33134392
GRCh38:
Chr6:33166615
COL11A2not 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
52.
GRCh37:
Chr6:33136575
GRCh38:
Chr6:33168798
COL11A2not 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
53.
GRCh37:
Chr6:33143807
GRCh38:
Chr6:33176030
COL11A2V752M, V645M, V666MFibrochondrogenesis 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
54.
GRCh37:
Chr6:33154574
GRCh38:
Chr6:33186797
COL11A2I210Vnot provided, Otospondylomegaepiphyseal dysplasia, autosomal dominantConflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr6:33143841
GRCh38:
Chr6:33176064
COL11A2not 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
56.
GRCh37:
Chr6:33160038
GRCh38:
Chr6:33192261
COL11A2not specified, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Conflicting interpretations of pathogenicity
(Mar 5, 2018)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:33141152
GRCh38:
Chr6:33173375
COL11A2Fibrochondrogenesis 2, not provided, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr6:33134834
GRCh38:
Chr6:33167057
COL11A2Autosomal 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
59.
GRCh37:
Chr6:33131582
GRCh38:
Chr6:33163805
COL11A2R1695Q, R1609Q, R1588Qnot specified, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Otospondylomegaepiphyseal dysplasia, autosomal recessive, not provided
Conflicting interpretations of pathogenicity
(Sep 9, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr6:33131578
GRCh38:
Chr6:33163801
COL11A2not specified, not provided, Fibrochondrogenesis 2,
Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr6:33156158
GRCh38:
Chr6:33188381
COL11A2L196Pnot provided, Otospondylomegaepiphyseal dysplasia, autosomal dominantConflicting interpretations of pathogenicity
(Nov 2, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr6:33154337
GRCh38:
Chr6:33186560
COL11A2P289Snot providedUncertain significance
(Dec 10, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr6:33139582
GRCh38:
Chr6:33171805
COL11A2R1020*, 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
64.
GRCh37:
Chr6:33139071
GRCh38:
Chr6:33171294
COL11A2T1097P, T990P, T1011PAutosomal 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
65.
GRCh37:
Chr6:33160258
GRCh38:
Chr6:33192481
COL11A2Nonsyndromic 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
66.
GRCh37:
Chr6:33160243
GRCh38:
Chr6:33192466
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr6:33160217
GRCh38:
Chr6:33192440
COL11A2not 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
68.
GRCh37:
Chr6:33160191
GRCh38:
Chr6:33192414
COL11A2not provided, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant, Fibrochondrogenesis 2
Benign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr6:33160109
GRCh38:
Chr6:33192332
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr6:33160013
GRCh38:
Chr6:33192236
COL11A2E2Gnot 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
71.
GRCh37:
Chr6:33156292
GRCh38:
Chr6:33188515
COL11A2Fibrochondrogenesis 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
72.
GRCh37:
Chr6:33153524
GRCh38:
Chr6:33185747
COL11A2P277HFibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr6:33152769
GRCh38:
Chr6:33184992
COL11A2E313D, E287DFibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant,
Stickler Syndrome, Dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr6:33148889
GRCh38:
Chr6:33181112
COL11A2P393L, P286L, P307LFibrochondrogenesis 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
75.
GRCh37:
Chr6:33148754
GRCh38:
Chr6:33180977
COL11A2P403L, P296L, P317LFibrochondrogenesis 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
76.
GRCh37:
Chr6:33147561
GRCh38:
Chr6:33179784
COL11A2G461C, G354C, G375CFibrochondrogenesis 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
77.
GRCh37:
Chr6:33146070
GRCh38:
Chr6:33178293
COL11A2Fibrochondrogenesis 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
78.
GRCh37:
Chr6:33145497
GRCh38:
Chr6:33177720
COL11A2Fibrochondrogenesis 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
79.
GRCh37:
Chr6:33144785
GRCh38:
Chr6:33177008
COL11A2G685A, G578A, G599AOtospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr6:33144068
GRCh38:
Chr6:33176291
COL11A2I728F, I621F, I642Fnot 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
81.
GRCh37:
Chr6:33143857
GRCh38:
Chr6:33176080
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr6:33143456
GRCh38:
Chr6:33175679
COL11A2not 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
83.
GRCh37:
Chr6:33142318
GRCh38:
Chr6:33174541
COL11A2R806C, R699C, R720COtospondylomegaepiphyseal 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
84.
GRCh37:
Chr6:33141177
GRCh38:
Chr6:33173400
COL11A2G895A, G788A, G809AOtospondylomegaepiphyseal 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
85.
GRCh37:
Chr6:33141126
GRCh38:
Chr6:33173349
COL11A2V912A, V805A, V826AOtospondylomegaepiphyseal 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
86.
GRCh37:
Chr6:33140357
GRCh38:
Chr6:33172580
COL11A2P950S, P843S, P864SOtospondylomegaepiphyseal 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
87.
GRCh37:
Chr6:33139548
GRCh38:
Chr6:33171771
COL11A2P1031L, P945L, P924LOtospondylomegaepiphyseal 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
88.
GRCh37:
Chr6:33139093
GRCh38:
Chr6:33171316
COL11A2Otospondylomegaepiphyseal 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
89.
GRCh37:
Chr6:33138929
GRCh38:
Chr6:33171152
COL11A2P1110S, P1003S, P1024SOtospondylomegaepiphyseal 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
90.
GRCh37:
Chr6:33138691
GRCh38:
Chr6:33170914
COL11A2A1124T, A1017T, A1038TOtospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Stickler Syndrome, Dominant,
Fibrochondrogenesis 2
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr6:33137882
GRCh38:
Chr6:33170105
COL11A2not 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
92.
GRCh37:
Chr6:33137644
GRCh38:
Chr6:33169867
COL11A2Fibrochondrogenesis 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
93.
GRCh37:
Chr6:33137233
GRCh38:
Chr6:33169456
COL11A2S1242L, S1135L, S1156LFibrochondrogenesis 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
94.
GRCh37:
Chr6:33136734
GRCh38:
Chr6:33168957
COL11A2R1284W, R1177W, R1198WFibrochondrogenesis 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
95.
GRCh37:
Chr6:33136506
GRCh38:
Chr6:33168729
COL11A2E1295K, E1188K, E1209KFibrochondrogenesis 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
96.
GRCh37:
Chr6:33135245
GRCh38:
Chr6:33167468
COL11A2not 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
97.
GRCh37:
Chr6:33134570
GRCh38:
Chr6:33166793
COL11A2P1422L, P1315L, P1336LFibrochondrogenesis 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
98.
GRCh37:
Chr6:33133490
GRCh38:
Chr6:33165713
COL11A2P1529L, P1422L, P1443LFibrochondrogenesis 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
99.
GRCh37:
Chr6:33133425
GRCh38:
Chr6:33165648
COL11A2R1551W, R1465W, R1444WFibrochondrogenesis 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
100.
GRCh37:
Chr6:33132242
GRCh38:
Chr6:33164465
COL11A2not 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
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