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Items: 27

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:47532440
GRCh38:
Chr21:46112526
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.09475(T)
GMAF:0.09510(T)
GO-ESP:0.08831(T)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr21:47532456
GRCh38:
Chr21:46112542
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.02711(A)
GMAF:0.02060(A)
GO-ESP:0.02106(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr21:47532500
GRCh38:
Chr21:46112586
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.03477(T)
GMAF:0.01620(T)
GO-ESP:0.04002(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr21:47535816
GRCh38:
Chr21:46115902
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.00823(A)
GMAF:0.00820(A)
GO-ESP:0.00259(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr21:47535959
GRCh38:
Chr21:46116045
COL6A2MyopathyLikely pathogenic
(May 14, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr21:47538960
GRCh38:
Chr21:46119046
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.72923(A)
GMAF:0.29470(G)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr21:47540421
GRCh38:
Chr21:46120507
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.16016(C)
GMAF:0.20030(C)
GO-ESP:0.22493(C)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr21:47542052
GRCh38:
Chr21:46122138
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.01162(T)
GMAF:0.00280(T)
GO-ESP:0.00909(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr21:47542779
GRCh38:
Chr21:46122865
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.14321(T)
GMAF:0.07350(T)
GO-ESP:0.12109(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr21:47542861
GRCh38:
Chr21:46122947
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.86087(G)
GMAF:0.15260(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr21:47544838
GRCh38:
Chr21:46124924
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.05530(A)
GMAF:0.13780(A)
GO-ESP:0.07579(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr21:47545768
GRCh38:
Chr21:46125854
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.41296(A)
GMAF:0.39400(A)
GO-ESP:0.47840(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr21:47545823
GRCh38:
Chr21:46125909
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.41273(A)
GMAF:0.39420(A)
GO-ESP:0.47551(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr21:47545826
GRCh38:
Chr21:46125912
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.41258(T)
GMAF:0.39400(T)
GO-ESP:0.47551(T)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr21:47545889
GRCh38:
Chr21:46125975
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.01768(G)
GMAF:0.01640(G)
GO-ESP:0.00489(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr21:47545892
GRCh38:
Chr21:46125978
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.03675(A)
GMAF:0.03670(A)
GO-ESP:0.00995(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr21:47545913
GRCh38:
Chr21:46125999
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.29156(A)
GMAF:0.32210(A)
GO-ESP:0.37481(A)
Benign
(Jan 16, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr21:47551895
GRCh38:
Chr21:46131981
COL6A2not specified, MyopathyGO-ESP:0.00008(A)
GO-ESP:0.00006(A)
Conflicting interpretations of pathogenicity
(Jul 8, 2015)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr21:47551998
GRCh38:
Chr21:46132084
COL6A2, FTCDGLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Collagen VI-related myopathy, not specified,
Myosclerosis
GO-ESP:0.01042(A)
GMAF:0.01140(A)
GO-ESP:0.00468(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr21:47552039
GRCh38:
Chr21:46132125
COL6A2not specified, MyopathyConflicting interpretations of pathogenicity
(Jan 26, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr21:47552103
GRCh38:
Chr21:46132189
COL6A2, FTCDGLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Collagen VI-related myopathy, not specified,
Myosclerosis
GO-ESP:0.02941(T)
GMAF:0.01700(T)
GO-ESP:0.06050(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr21:47552130
GRCh38:
Chr21:46132216
COL6A2, FTCDGLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Collagen VI-related myopathy, not specified,
Myosclerosis
GO-ESP:0.15080(G)
GMAF:0.13980(G)
GO-ESP:0.16914(G)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr21:47552167
GRCh38:
Chr21:46132253
COL6A2not specifiedGMAF:0.00020(A)Uncertain significance
(Nov 3, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr21:47552209
GRCh38:
Chr21:46132295
COL6A2, FTCDGLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Collagen VI-related myopathy, not specified,
Myosclerosis
GO-ESP:0.08140(A)
GMAF:0.06730(A)
GO-ESP:0.09244(A)
Benign/Likely benign
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr21:47552385
GRCh38:
Chr21:46132471
COL6A2, FTCDGLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Collagen VI-related myopathy, not specified,
Myosclerosis
GO-ESP:0.16731(T)
GMAF:0.09250(T)
GO-ESP:0.13733(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr21:47552386
GRCh38:
Chr21:46132472
COL6A2, FTCDGLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Collagen VI-related myopathy, not specified,
Myosclerosis
GO-ESP:0.00108(A)
GMAF:0.02660(A)
GO-ESP:0.01238(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr21:47552389
GRCh38:
Chr21:46132475
COL6A2Collagen VI-related myopathy, not specified, Myosclerosis
GO-ESP:0.00908(A)
GMAF:0.00780(A)
GO-ESP:0.00283(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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