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Items: 1 to 100 of 1058

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
COL6A3Bethlem myopathy 1Pathogenic
(Oct 1, 2007)
no assertion criteria provided
2.
COL6A3Ullrich congenital muscular dystrophy 1, autosomal dominantPathogenic
(Jul 7, 2009)
no assertion criteria provided
3.
COL6A3Ullrich congenital muscular dystrophy 1Pathogenic
(Jun 1, 2002)
no assertion criteria provided
4.
GRCh37:
Chr2:238232663
GRCh38:
Chr2:237324020
COL6A3Collagen VI-related myopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr2:238232752
GRCh38:
Chr2:237324109
COL6A3Collagen VI-related myopathyBenign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr2:238232754
GRCh38:
Chr2:237324111
COL6A3Collagen VI-related myopathyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:238232811
GRCh38:
Chr2:237324168
COL6A3Collagen VI-related myopathyBenign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:238232991
GRCh38:
Chr2:237324348
COL6A3Collagen VI-related myopathyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:238233040
GRCh38:
Chr2:237324397
COL6A3Collagen VI-related myopathyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr2:238233132
GRCh38:
Chr2:237324489
COL6A3Collagen VI-related myopathyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:238233327
GRCh38:
Chr2:237324684
COL6A3Collagen VI-related myopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr2:238233410
GRCh38:
Chr2:237324767
COL6A3Collagen VI-related myopathy, not specifiedBenign
(Mar 2, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:238233427
GRCh38:
Chr2:237324784
COL6A3Collagen VI-related myopathy, not specified, not provided
Conflicting interpretations of pathogenicity
(Sep 7, 2017)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr2:238233443
GRCh38:
Chr2:237324800
COL6A3Bethlem myopathy 1, not specifiedUncertain significance
(Mar 2, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:238233453
GRCh38:
Chr2:237324810
COL6A3Bethlem myopathy 1, not specifiedConflicting interpretations of pathogenicity
(Jun 5, 2017)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:238233459
GRCh38:
Chr2:237324816
COL6A3Bethlem myopathy 1Uncertain significance
(May 3, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr2:238233462
GRCh38:
Chr2:237324819
COL6A3not specifiedUncertain significance
(Mar 23, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:238233464
GRCh38:
Chr2:237324821
COL6A3not specifiedLikely benign
(Feb 15, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr2:238233467
GRCh38:
Chr2:237324824
COL6A3Collagen VI-related myopathy, not specifiedConflicting interpretations of pathogenicity
(Jun 15, 2017)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr2:238233483
GRCh38:
Chr2:237324840
COL6A3not specifiedBenign
(Nov 2, 2012)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:238234209
GRCh38:
Chr2:237325566
COL6A3not specifiedUncertain significance
(Feb 12, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr2:238234237
GRCh38:
Chr2:237325594
COL6A3not specifiedUncertain significance
(Mar 7, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr2:238234238
GRCh38:
Chr2:237325595
COL6A3not specifiedUncertain significance
(Jul 18, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr2:238234239
GRCh38:
Chr2:237325596
COL6A3not specifiedUncertain significance
(Jan 19, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr2:238234245
GRCh38:
Chr2:237325602
COL6A3Bethlem myopathy 1, not specifiedUncertain significance
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr2:238234251
GRCh38:
Chr2:237325608
COL6A3not specifiedUncertain significance
(May 22, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr2:238234252
GRCh38:
Chr2:237325609
COL6A3not specifiedConflicting interpretations of pathogenicity
(Nov 21, 2017)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr2:238234278
GRCh38:
Chr2:237325635
COL6A3not specifiedUncertain significance
(Aug 18, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr2:238234285
GRCh38:
Chr2:237325642
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Benign/Likely benign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:238234289
GRCh38:
Chr2:237325646
COL6A3Bethlem myopathy 1Uncertain significance
(Dec 1, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr2:238234302
GRCh38:
Chr2:237325659
COL6A3not specifiedUncertain significance
(Feb 4, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr2:238234322
GRCh38:
Chr2:237325679
COL6A3Bethlem myopathy 1Uncertain significance
(Mar 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr2:238234338
GRCh38:
Chr2:237325695
COL6A3not specifiedUncertain significance
(Nov 5, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr2:238234345
GRCh38:
Chr2:237325702
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Conflicting interpretations of pathogenicity
(Nov 15, 2017)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr2:238234351
GRCh38:
Chr2:237325708
COL6A3not specifiedUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr2:238234352
GRCh38:
Chr2:237325709
COL6A3Bethlem myopathy 1, not specifiedUncertain significance
(Oct 27, 2017)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:238234366
GRCh38:
Chr2:237325723
COL6A3not specifiedUncertain significance
(Dec 29, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr2:238234371
GRCh38:
Chr2:237325728
COL6A3Collagen VI-related myopathy, not specifiedLikely benign
(Jun 29, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:238234400
GRCh38:
Chr2:237325757
COL6A3not specifiedConflicting interpretations of pathogenicity
(Oct 16, 2012)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr2:238242131
GRCh38:
Chr2:237333488
COL6A3not specifiedUncertain significance
(Aug 24, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr2:238242137
GRCh38:
Chr2:237333494
COL6A3not specifiedUncertain significance
(Feb 13, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr2:238242171
GRCh38:
Chr2:237333528
COL6A3Bethlem myopathy 1Uncertain significance
(Apr 30, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr2:238242173
GRCh38:
Chr2:237333530
COL6A3not specifiedUncertain significance
(Mar 1, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr2:238242176
GRCh38:
Chr2:237333533
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified,
Dystonia 27
Conflicting interpretations of pathogenicity
(Dec 11, 2017)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr2:238243265
GRCh38:
Chr2:237334622
COL6A3Bethlem myopathy 1Uncertain significance
(Mar 19, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr2:238243281
GRCh38:
Chr2:237334638
COL6A3not specifiedUncertain significance
(May 25, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr2:238243285
GRCh38:
Chr2:237334642
COL6A3Collagen VI-related myopathy, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:238243289
GRCh38:
Chr2:237334646
COL6A3Bethlem myopathy 1, not specifiedUncertain significance
(Jan 25, 2018)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:238243292
GRCh38:
Chr2:237334649
COL6A3Collagen VI-related myopathy, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:238243300
GRCh38:
Chr2:237334657
COL6A3not specifiedUncertain significance
(Oct 5, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr2:238243305
GRCh38:
Chr2:237334662
COL6A3Muscular DiseasesPathogenic
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr2:238243318
GRCh38:
Chr2:237334675
COL6A3not specifiedUncertain significance
(Jan 31, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr2:238243350
GRCh38:
Chr2:237334707
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Benign/Likely benign
(Dec 5, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:238243351
GRCh38:
Chr2:237334708
COL6A3Collagen VI-related myopathy, not specifiedConflicting interpretations of pathogenicity
(Dec 7, 2016)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr2:238243368
GRCh38:
Chr2:237334725
COL6A3not specifiedUncertain significance
(Oct 20, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr2:238243369
GRCh38:
Chr2:237334726
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified,
not provided
Benign
(Dec 20, 2017)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:238243370
GRCh38:
Chr2:237334727
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified,
Dystonia 27
Conflicting interpretations of pathogenicity
(Dec 15, 2017)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr2:238243375
GRCh38:
Chr2:237334732
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified,
not provided
Benign/Likely benign
(Oct 17, 2017)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:238243381
GRCh38:
Chr2:237334738
COL6A3not specifiedUncertain significance
(Aug 19, 2015)
criteria provided, single submitter
60.
GRCh37:
Chr2:238243382
GRCh38:
Chr2:237334739
COL6A3Bethlem myopathy 1, not specifiedUncertain significance
(Oct 26, 2017)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:238243402
GRCh38:
Chr2:237334759
COL6A3not specifiedUncertain significance
(Sep 7, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr2:238243411
GRCh38:
Chr2:237334768
COL6A3Bethlem myopathy 1Uncertain significance
(Mar 15, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr2:238243429
GRCh38:
Chr2:237334786
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Benign/Likely benign
(Mar 1, 2018)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:238243435-238243437
GRCh38:
Chr2:237334792-237334794
COL6A3Bethlem myopathy 1Uncertain significance
(Jun 29, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr2:238243437
GRCh38:
Chr2:237334794
COL6A3not specifiedUncertain significance
(Jun 27, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr2:238243439
GRCh38:
Chr2:237334796
COL6A3Bethlem myopathy 1Uncertain significance
(Mar 14, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr2:238243453
GRCh38:
Chr2:237334810
COL6A3Bethlem myopathy 1Likely benign
(Jul 12, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr2:238243455
GRCh38:
Chr2:237334812
COL6A3not specifiedUncertain significance
(Jan 30, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr2:238243457
GRCh38:
Chr2:237334814
COL6A3Bethlem myopathy 1Uncertain significance
(Feb 1, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr2:238243464
GRCh38:
Chr2:237334821
COL6A3Collagen VI-related myopathy, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:238243481
GRCh38:
Chr2:237334838
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Benign/Likely benign
(Aug 16, 2017)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:238243486
GRCh38:
Chr2:237334843
COL6A3not specifiedLikely benign
(Jan 6, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr2:238243493
GRCh38:
Chr2:237334850
COL6A3not specifiedUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr2:238243520
GRCh38:
Chr2:237334877
COL6A3Bethlem myopathy 1, not specified, not provided
Conflicting interpretations of pathogenicity
(May 7, 2018)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr2:238243521
GRCh38:
Chr2:237334878
COL6A3Bethlem myopathy 1Uncertain significance
(May 3, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr2:238243524
GRCh38:
Chr2:237334881
COL6A3not specifiedUncertain significance
(Nov 10, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr2:238243528
GRCh38:
Chr2:237334885
COL6A3Bethlem myopathy 1, not specifiedConflicting interpretations of pathogenicity
(Aug 10, 2017)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr2:238243533
GRCh38:
Chr2:237334890
COL6A3Bethlem myopathy 1, not provided, Dystonia 27
Pathogenic
(Apr 24, 2018)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:238243535
GRCh38:
Chr2:237334892
COL6A3Bethlem myopathy 1, not specifiedUncertain significance
(May 10, 2018)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:238244777
GRCh38:
Chr2:237336134
COL6A3not providedLikely pathogenic
(Oct 7, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr2:238244781
GRCh38:
Chr2:237336138
COL6A3Collagen VI-related myopathy, not specified, not provided
Benign
(Sep 14, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:238244812
GRCh38:
Chr2:237336169
COL6A3not providedPathogenic
(Nov 1, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr2:238244813
GRCh38:
Chr2:237336170
COL6A3not specifiedUncertain significance
(Mar 28, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr2:238244819
GRCh38:
Chr2:237336176
COL6A3not specifiedUncertain significance
(Jan 30, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr2:238244851
GRCh38:
Chr2:237336208
COL6A3not specifiedLikely benign
(Jun 26, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr2:238244852
GRCh38:
Chr2:237336209
COL6A3not specifiedUncertain significance
(Mar 1, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr2:238244863-238244864
GRCh38:
Chr2:237336220-237336221
COL6A3not specifiedUncertain significance
(Jan 5, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr2:238244864-238244866
GRCh38:
Chr2:237336221-237336223
COL6A3Collagen VI-related myopathy, not specified, not provided
Benign
(Mar 16, 2018)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:238244878
GRCh38:
Chr2:237336235
COL6A3not specifiedUncertain significance
(Jul 28, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr2:238244882
GRCh38:
Chr2:237336239
COL6A3Bethlem myopathy 1Uncertain significance
(Apr 6, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr2:238244897
GRCh38:
Chr2:237336254
COL6A3not specifiedUncertain significance
(Jun 5, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr2:238244917
GRCh38:
Chr2:237336274
COL6A3not specifiedLikely benign
(Sep 21, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr2:238244921
GRCh38:
Chr2:237336278
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Benign/Likely benign
(Jan 5, 2018)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:238244923
GRCh38:
Chr2:237336280
COL6A3Collagen VI-related myopathy, not specified, not provided
Benign
(Sep 14, 2017)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:238244924
GRCh38:
Chr2:237336281
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Conflicting interpretations of pathogenicity
(Mar 30, 2017)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr2:238244938
GRCh38:
Chr2:237336295
COL6A3not specifiedUncertain significance
(Feb 12, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr2:238244939
GRCh38:
Chr2:237336296
COL6A3Bethlem myopathy 1, Collagen VI-related myopathy, not specified
Conflicting interpretations of pathogenicity
(Nov 6, 2017)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr2:238244949
GRCh38:
Chr2:237336306
COL6A3not specifiedUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr2:238244963
GRCh38:
Chr2:237336320
COL6A3Collagen VI-related myopathy, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:238244993
GRCh38:
Chr2:237336350
COL6A3Bethlem myopathy 1Uncertain significance
(May 9, 2018)
criteria provided, single submitter
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