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Items: 1 to 100 of 370

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
COL11A1Marshall syndromePathogenic
(Feb 1, 2007)
no assertion criteria provided
2.
COL11A1Stickler syndrome, type 2Pathogenic
(Oct 1, 1999)
no assertion criteria provided
3.
COL11A1Marshall syndromePathogenic
(Oct 1, 1999)
no assertion criteria provided
4.
GRCh37:
Chr1:103342087
GRCh38:
Chr1:102876531
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:103342336
GRCh38:
Chr1:102876780
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:103342348
GRCh38:
Chr1:102876792
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:103342372
GRCh38:
Chr1:102876816
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:103342392
GRCh38:
Chr1:102876836
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:103342470
GRCh38:
Chr1:102876914
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:103342484
GRCh38:
Chr1:102876928
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:103342622
GRCh38:
Chr1:102877066
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:103342766
GRCh38:
Chr1:102877210
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:103342860
GRCh38:
Chr1:102877304
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr1:103342888
GRCh38:
Chr1:102877332
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:103342943
GRCh38:
Chr1:102877387
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:103342947
GRCh38:
Chr1:102877391
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:103342996
GRCh38:
Chr1:102877440
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:103343067
GRCh38:
Chr1:102877511
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:103343274
GRCh38:
Chr1:102877718
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:103343335
GRCh38:
Chr1:102877779
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:103343470
GRCh38:
Chr1:102877914
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:103343558
GRCh38:
Chr1:102878002
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Likely benign
(May 17, 2017)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:103343611
GRCh38:
Chr1:102878055
COL11A1not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr1:103343671
GRCh38:
Chr1:102878115
COL11A1not specifiedLikely benign
(Dec 26, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr1:103345240
GRCh38:
Chr1:102879684
COL11A1Marshall syndrome, Fibrochondrogenesis, not provided,
Stickler Syndrome, Dominant
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr1:103345315
GRCh38:
Chr1:102879759
COL11A1Marshall syndrome, Fibrochondrogenesis, not provided,
Stickler Syndrome, Dominant, Connective tissue disorder
Conflicting interpretations of pathogenicity
(Jun 1, 2018)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr1:103345443
GRCh38:
Chr1:102879887
COL11A1not providedUncertain significance
(Apr 18, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr1:103347290
GRCh38:
Chr1:102881734
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:103348761
GRCh38:
Chr1:102883205
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign/Likely benign
(Oct 20, 2017)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:103348791
GRCh38:
Chr1:102883235
COL11A1not specifiedLikely benigncriteria provided, single submitter
31.
GRCh37:
Chr1:103348820
GRCh38:
Chr1:102883264
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:103348850
GRCh38:
Chr1:102883294
COL11A1Connective tissue disorderUncertain significance
(Nov 1, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:103348870
GRCh38:
Chr1:102883314
COL11A1not providedUncertain significance
(Jun 18, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr1:103348886
GRCh38:
Chr1:102883330
COL11A1not specifiedLikely benign
(Nov 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr1:103352416
GRCh38:
Chr1:102886860
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:103352419
GRCh38:
Chr1:102886863
COL11A1not provided, Connective tissue disorderConflicting interpretations of pathogenicity
(Nov 8, 2018)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr1:103352451
GRCh38:
Chr1:102886895
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign
(Sep 29, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:103352493
GRCh38:
Chr1:102886937
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:103352502
GRCh38:
Chr1:102886946
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr1:103352503
GRCh38:
Chr1:102886947
COL11A1not providedUncertain significance
(Jan 31, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr1:103352520
GRCh38:
Chr1:102886964
COL11A1not specifiedBenigncriteria provided, single submitter
42.
GRCh37:
Chr1:103352560
GRCh38:
Chr1:102887004
COL11A1not providedUncertain significance
(Jun 22, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr1:103352579
GRCh38:
Chr1:102887023
COL11A1not providedUncertain significance
(Sep 18, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr1:103352594
GRCh38:
Chr1:102887038
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr1:103354099
GRCh38:
Chr1:102888543
COL11A1not specifiedLikely benigncriteria provided, single submitter
46.
GRCh37:
Chr1:103354115
GRCh38:
Chr1:102888559
COL11A1not specifiedBenign
(Oct 3, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:103354135
GRCh38:
Chr1:102888579
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
not provided, Stickler Syndrome, Dominant
Benign/Likely benign
(Apr 24, 2017)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:103354138
GRCh38:
Chr1:102888582
COL11A1Marshall syndrome, Fibrochondrogenesis, Lumbar disc herniation, susceptibility to,
not specified, Stickler Syndrome, Dominant
Benign
(Sep 29, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:103354147
GRCh38:
Chr1:102888591
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:103354278
GRCh38:
Chr1:102888722
COL11A1not providedPathogenic
(Aug 9, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr1:103354281
GRCh38:
Chr1:102888725
COL11A1not providedUncertain significance
(Nov 2, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr1:103354286
GRCh38:
Chr1:102888730
COL11A1Marshall syndrome, not providedPathogenic/Likely pathogenic
(Jul 23, 2018)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:103354295
GRCh38:
Chr1:102888739
COL11A1not providedLikely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr1:103354307
GRCh38:
Chr1:102888751
COL11A1not providedUncertain significance
(Aug 4, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr1:103354428
GRCh38:
Chr1:102888872
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign
(Sep 29, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:103354445
GRCh38:
Chr1:102888889
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:103354472
GRCh38:
Chr1:102888916
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign/Likely benign
(Apr 12, 2017)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:103354994
GRCh38:
Chr1:102889438
COL11A1Connective tissue disorderLikely benign
(Jun 1, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr1:103355059
GRCh38:
Chr1:102889503
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant, Connective tissue disorder
Likely benign
(Jan 2, 2018)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:103355064
GRCh38:
Chr1:102889508
COL11A1not providedUncertain significance
(Jul 28, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:103355079
GRCh38:
Chr1:102889523
COL11A1Stickler syndrome, type 2Pathogenic
(Sep 1, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr1:103355098
GRCh38:
Chr1:102889542
COL11A1not providedUncertain significance
(Jun 6, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:103355134
GRCh38:
Chr1:102889578
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:103356043
GRCh38:
Chr1:102890487
COL11A1not providedUncertain significance
(Dec 21, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr1:103356073
GRCh38:
Chr1:102890517
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign
(Mar 14, 2018)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:103356073
GRCh38:
Chr1:102890517
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr1:103356107
GRCh38:
Chr1:102890551
COL11A1not specifiedBenigncriteria provided, single submitter
68.
GRCh37:
Chr1:103363633
GRCh38:
Chr1:102898077
COL11A1not specifiedLikely benigncriteria provided, single submitter
69.
GRCh37:
Chr1:103363679
GRCh38:
Chr1:102898123
COL11A1not providedLikely pathogenic
(Sep 30, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr1:103364248
GRCh38:
Chr1:102898692
COL11A1Marshall syndrome, Fibrochondrogenesis, not provided,
Stickler Syndrome, Dominant
Uncertain significance
(Feb 28, 2018)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:103364285
GRCh38:
Chr1:102898729
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant, Connective tissue disorder
Likely benign
(Nov 30, 2017)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:103364337
GRCh38:
Chr1:102898781
COL11A1not specifiedLikely benign
(Dec 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr1:103364484
GRCh38:
Chr1:102898928
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign/Likely benign
(Apr 12, 2017)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:103364484
GRCh38:
Chr1:102898928
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler Syndrome, Dominant
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr1:103364487
GRCh38:
Chr1:102898931
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant, Connective tissue disorder
Benign/Likely benign
(Sep 27, 2017)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:103364494
GRCh38:
Chr1:102898938
COL11A1Connective tissue disorderLikely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr1:103364537
GRCh38:
Chr1:102898981
COL11A1not providedUncertain significance
(Dec 2, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr1:103364554
GRCh38:
Chr1:102898998
COL11A1not specifiedLikely benign
(Jan 17, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr1:103377717
GRCh38:
Chr1:102912161
COL11A1not providedPathogenic
(Jan 22, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr1:103377736-103377753
GRCh38:
Chr1:102912180-102912197
COL11A1Hypertelorism, Telecanthus, Megalocornea,
Abnormal facial shape, Myopia, Short nose,
Cleft palate, Hypoplasia of the maxilla, Megalocornea,
Telecanthus, Cleft palate ...see more
Likely pathogenic
(Jan 1, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr1:103377744
GRCh38:
Chr1:102912188
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
not provided, Stickler Syndrome, Dominant
Conflicting interpretations of pathogenicity
(May 30, 2017)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr1:103377778
GRCh38:
Chr1:102912222
COL11A1not specifiedLikely benign
(Nov 21, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr1:103377780
GRCh38:
Chr1:102912224
COL11A1not specifiedLikely benign
(Dec 6, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr1:103379175
GRCh38:
Chr1:102913619
COL11A1not specifiedLikely benign
(Nov 7, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr1:103379192
GRCh38:
Chr1:102913636
COL11A1not providedPathogenic
(Mar 23, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr1:103379193
GRCh38:
Chr1:102913637
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
not provided, Stickler Syndrome, Dominant, Connective tissue disorder
Conflicting interpretations of pathogenicity
(Jun 1, 2018)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr1:103379216-103379227
GRCh38:
Chr1:102913660-102913671
COL11A1not providedLikely pathogenic
(Oct 19, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr1:103379241
GRCh38:
Chr1:102913685
COL11A1not providedUncertain significance
(Mar 6, 2015)
criteria provided, single submitter
89.
GRCh37:
Chr1:103379249
GRCh38:
Chr1:102913693
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign/Likely benign
(Nov 21, 2017)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:103379256
GRCh38:
Chr1:102913700
COL11A1not specifiedLikely benign
(Jul 14, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr1:103379260
GRCh38:
Chr1:102913704
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign/Likely benign
(Oct 28, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:103379870
GRCh38:
Chr1:102914314
COL11A1not specifiedBenigncriteria provided, single submitter
93.
GRCh37:
Chr1:103379918
GRCh38:
Chr1:102914362
COL11A1Marshall syndrome, Fibrochondrogenesis, not specified,
Stickler Syndrome, Dominant
Benign
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:103379943
GRCh38:
Chr1:102914387
COL11A1FibrochondrogenesisPathogenic
(Nov 12, 2010)
no assertion criteria provided
95.
GRCh37:
Chr1:103379972
GRCh38:
Chr1:102914416
COL11A1not specifiedLikely benign
(Dec 30, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr1:103379977
GRCh38:
Chr1:102914421
COL11A1not specified, Connective tissue disorderLikely benign
(Nov 28, 2017)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:103380241
GRCh38:
Chr1:102914685
COL11A1not specifiedBenign
(Oct 14, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:103380316
GRCh38:
Chr1:102914760
COL11A1not providedUncertain significance
(Jan 17, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr1:103380353
GRCh38:
Chr1:102914797
COL11A1not providedUncertain significance
(May 8, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr1:103380372
GRCh38:
Chr1:102914816
COL11A1not specifiedBenign
(Feb 6, 2018)
criteria provided, single submitter
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