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Items: 85

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:151254284
GRCh38:
Chr7:151557198
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr7:151254285
GRCh38:
Chr7:151557199
PRKAG2not specifiedLikely benign
(Aug 22, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr7:151254293
GRCh38:
Chr7:151557207
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Cardiovascular phenotype
Benign
(Aug 22, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr7:151254310
GRCh38:
Chr7:151557224
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedUncertain significance
(Oct 4, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:151257644
GRCh38:
Chr7:151560558
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedConflicting interpretations of pathogenicity
(Jul 15, 2016)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr7:151257665
GRCh38:
Chr7:151560579
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Benign/Likely benign
(Jan 27, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:151257695
GRCh38:
Chr7:151560609
PRKAG2Glycogen storage disease of heart, lethal congenital, Cardiomyopathy, not specified,
Wolff-Parkinson-White syndrome, Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Conflicting interpretations of pathogenicity
(Jan 18, 2017)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr7:151257696
GRCh38:
Chr7:151560610
PRKAG2not specifiedUncertain significance
(Jan 23, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr7:151257696
GRCh38:
Chr7:151560610
PRKAG2Glycogen storage disease of heart, lethal congenital, Primary familial hypertrophic cardiomyopathy, not provided
Pathogenic
(Mar 27, 2013)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr7:151257707
GRCh38:
Chr7:151560621
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedBenign/Likely benign
(Sep 28, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr7:151261157
GRCh38:
Chr7:151564071
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedBenign/Likely benign
(Nov 2, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr7:151261232
GRCh38:
Chr7:151564146
PRKAG2Familial hypertrophic cardiomyopathy 6, Primary familial hypertrophic cardiomyopathy, not provided
Pathogenic/Likely pathogenic
(Oct 3, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:151261240
GRCh38:
Chr7:151564154
PRKAG2not specifiedUncertain significance
(Feb 4, 2013)
no assertion criteria provided
14.
GRCh37:
Chr7:151261296
GRCh38:
Chr7:151564210
PRKAG2not specifiedLikely benign
(Jun 26, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr7:151261299
GRCh38:
Chr7:151564213
PRKAG2not specifiedLikely benign
(Mar 19, 2012)
criteria provided, single submitter
16.
GRCh37:
Chr7:151261308
GRCh38:
Chr7:151564222
PRKAG2not specifiedLikely benign
(Aug 22, 2012)
criteria provided, single submitter
17.
GRCh37:
Chr7:151262815
GRCh38:
Chr7:151565729
PRKAG2Glycogen storage disease of heart, lethal congenital, Primary familial hypertrophic cardiomyopathy, not specified,
Wolff-Parkinson-White syndrome, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Uncertain significance
(Feb 1, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr7:151262887
GRCh38:
Chr7:151565801
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedConflicting interpretations of pathogenicity
(Jun 16, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr7:151262890
GRCh38:
Chr7:151565804
PRKAG2not specifiedUncertain significance
(Jul 23, 2014)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr7:151262909
GRCh38:
Chr7:151565823
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Cardiovascular phenotype
Benign/Likely benign
(Dec 21, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr7:151262938
GRCh38:
Chr7:151565852
PRKAG2Glycogen storage disease of heart, lethal congenital, Primary familial hypertrophic cardiomyopathy, not specified
Uncertain significance
(Feb 20, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:151265823
GRCh38:
Chr7:151568737
PRKAG2not specifiedUncertain significance
(Jun 24, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr7:151265836
GRCh38:
Chr7:151568750
PRKAG2Familial hypertrophic cardiomyopathy 6, Primary familial hypertrophic cardiomyopathyPathogenic/Likely pathogenic
(Nov 21, 2012)
criteria provided, single submitter
24.
GRCh37:
Chr7:151265883
GRCh38:
Chr7:151568797
PRKAG2not specifiedUncertain significance
(Mar 1, 2008)
no assertion criteria provided
25.
GRCh37:
Chr7:151267248
GRCh38:
Chr7:151570162
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedBenign/Likely benign
(Jan 9, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr7:151267265
GRCh38:
Chr7:151570179
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Sep 15, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr7:151267292
GRCh38:
Chr7:151570206
PRKAG2not specifiedLikely benign
(Mar 24, 2009)
criteria provided, single submitter
28.
GRCh37:
Chr7:151269771
GRCh38:
Chr7:151572685
PRKAG2Primary familial hypertrophic cardiomyopathy, not specifiedConflicting interpretations of pathogenicity
(Nov 3, 2013)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr7:151269795
GRCh38:
Chr7:151572709
PRKAG2not specifiedUncertain significance
(Aug 1, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr7:151271989
GRCh38:
Chr7:151574903
PRKAG2not specifiedLikely benign
(Jun 25, 2008)
criteria provided, single submitter
31.
GRCh37:
Chr7:151272001
GRCh38:
Chr7:151574915
PRKAG2not specifiedLikely benign
(Sep 26, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:151272015
GRCh38:
Chr7:151574929
PRKAG2Primary familial hypertrophic cardiomyopathyLikely pathogenic
(Mar 1, 2008)
no assertion criteria provided
33.
GRCh37:
Chr7:151273444
GRCh38:
Chr7:151576358
PRKAG2not specifiedLikely benign
(Apr 15, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr7:151273454
GRCh38:
Chr7:151576368
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedConflicting interpretations of pathogenicity
(Jul 26, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr7:151273491
GRCh38:
Chr7:151576405
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Conflicting interpretations of pathogenicity
(Oct 26, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr7:151273498
GRCh38:
Chr7:151576412
PRKAG2Glycogen storage disease of heart, lethal congenital, Familial hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern,
Primary familial hypertrophic cardiomyopathy, not provided
Pathogenic
(Feb 3, 2017)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr7:151273506
GRCh38:
Chr7:151576420
PRKAG2not specifiedLikely benign
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr7:151273538
GRCh38:
Chr7:151576452
PRKAG2not specifiedUncertain significance
(Feb 6, 2013)
criteria provided, single submitter
39.
GRCh37:
Chr7:151292418
GRCh38:
Chr7:151595332
PRKAG2not specifiedLikely benign
(Aug 21, 2014)
criteria provided, single submitter
40.
GRCh37:
Chr7:151292458
GRCh38:
Chr7:151595372
PRKAG2not specifiedLikely benign
(Jan 5, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr7:151292469
GRCh38:
Chr7:151595383
PRKAG2not specifiedUncertain significance
(Nov 12, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr7:151292488
GRCh38:
Chr7:151595402
PRKAG2not specifiedLikely benign
(Jul 29, 2013)
criteria provided, single submitter
43.
GRCh37:
Chr7:151329170
GRCh38:
Chr7:151632084
PRKAG2not specifiedLikely benign
(Apr 23, 2009)
no assertion criteria provided
44.
GRCh37:
Chr7:151329187
GRCh38:
Chr7:151632101
PRKAG2not specifiedUncertain significance
(Oct 6, 2009)
no assertion criteria provided
45.
GRCh37:
Chr7:151329189
GRCh38:
Chr7:151632103
PRKAG2not specifiedLikely benign
(Aug 13, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr7:151329211
GRCh38:
Chr7:151632125
PRKAG2not specifiedUncertain significance
(May 1, 2017)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr7:151329231
GRCh38:
Chr7:151632145
PRKAG2not specifiedConflicting interpretations of pathogenicity
(Mar 29, 2016)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr7:151329232
GRCh38:
Chr7:151632146
PRKAG2not specifiedLikely benign
(Feb 26, 2010)
criteria provided, single submitter
49.
GRCh37:
Chr7:151372551
GRCh38:
Chr7:151675465
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Cardiovascular phenotype
Benign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr7:151372570
GRCh38:
Chr7:151675484
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:151372572
GRCh38:
Chr7:151675486
PRKAG2not specifiedLikely benign
(Oct 7, 2008)
criteria provided, single submitter
52.
GRCh37:
Chr7:151372596
GRCh38:
Chr7:151675510
PRKAG2not specifiedLikely benign
(Mar 1, 2008)
criteria provided, single submitter
53.
GRCh37:
Chr7:151372597
GRCh38:
Chr7:151675511
PRKAG2not specifiedUncertain significance
(Jul 24, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr7:151372636
GRCh38:
Chr7:151675550
PRKAG2not specifiedUncertain significance
(Oct 16, 2012)
criteria provided, single submitter
55.
GRCh37:
Chr7:151372658
GRCh38:
Chr7:151675572
PRKAG2not specifiedUncertain significance
(Oct 25, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr7:151372659
GRCh38:
Chr7:151675573
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedBenign/Likely benign
(Aug 18, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr7:151372669
GRCh38:
Chr7:151675583
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedUncertain significance
(Apr 16, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr7:151372702
GRCh38:
Chr7:151675616
PRKAG2not specifiedUncertain significance
(Dec 23, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr7:151372718
GRCh38:
Chr7:151675632
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedConflicting interpretations of pathogenicity
(Aug 24, 2016)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr7:151372719
GRCh38:
Chr7:151675633
PRKAG2not specified, Cardiovascular phenotypeBenign/Likely benign
(Sep 8, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr7:151372733
GRCh38:
Chr7:151675647
PRKAG2not specifiedUncertain significance
(Jun 19, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr7:151478231
GRCh38:
Chr7:151781145
PRKAG2not specifiedLikely benign
(Mar 14, 2011)
criteria provided, single submitter
63.
GRCh37:
Chr7:151478276
GRCh38:
Chr7:151781190
PRKAG2not specifiedUncertain significance
(Oct 1, 2008)
no assertion criteria provided
64.
GRCh37:
Chr7:151478279
GRCh38:
Chr7:151781193
PRKAG2Glycogen storage disease of heart, lethal congenital, Arrhythmogenic right ventricular cardiomyopathy, type 9, not specified,
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr7:151478348
GRCh38:
Chr7:151781262
PRKAG2not specifiedUncertain significance
(Oct 4, 2012)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr7:151478379
GRCh38:
Chr7:151781293
PRKAG2not specifiedUncertain significance
(Aug 13, 2015)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr7:151478391
GRCh38:
Chr7:151781305
PRKAG2not specifiedUncertain significance
(Dec 16, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr7:151478392
GRCh38:
Chr7:151781306
PRKAG2not specifiedLikely benign
(Apr 14, 2008)
criteria provided, single submitter
69.
GRCh37:
Chr7:151478406
GRCh38:
Chr7:151781320
PRKAG2Glycogen storage disease of heart, lethal congenital, Wolff-Parkinson-White pattern, Cardiomyopathy,
not specified, Wolff-Parkinson-White syndrome, PRKAG2 cardiac syndrome,
Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Conflicting interpretations of pathogenicity
(Nov 8, 2016)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr7:151478453
GRCh38:
Chr7:151781367
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedConflicting interpretations of pathogenicity
(Jul 31, 2016)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr7:151478454
GRCh38:
Chr7:151781368
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedConflicting interpretations of pathogenicity
(Feb 15, 2016)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr7:151478457
GRCh38:
Chr7:151781371
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedLikely benign
(Jun 18, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr7:151478464
GRCh38:
Chr7:151781378
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr7:151478497
GRCh38:
Chr7:151781411
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Benign/Likely benign
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr7:151478498
GRCh38:
Chr7:151781412
PRKAG2not specifiedUncertain significance
(Feb 23, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr7:151483556
GRCh38:
Chr7:151786470
PRKAG2not specifiedUncertain significance
(Dec 2, 2010)
criteria provided, single submitter
77.
GRCh37:
Chr7:151483576
GRCh38:
Chr7:151786490
PRKAG2not specifiedUncertain significance
(Apr 10, 2014)
criteria provided, single submitter
78.
GRCh37:
Chr7:151483605
GRCh38:
Chr7:151786519
PRKAG2not specifiedUncertain significance
(Nov 24, 2015)
criteria provided, single submitter
79.
GRCh37:
Chr7:151483612
GRCh38:
Chr7:151786526
PRKAG2Glycogen storage disease of heart, lethal congenital, not specifiedConflicting interpretations of pathogenicity
(May 28, 2016)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr7:151483619
GRCh38:
Chr7:151786533
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Conflicting interpretations of pathogenicity
(Oct 12, 2016)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr7:151573580
GRCh38:
Chr7:151876495
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr7:151573592
GRCh38:
Chr7:151876507
PRKAG2not specifiedLikely benign
(Dec 8, 2008)
criteria provided, single submitter
83.
GRCh37:
Chr7:151573595
GRCh38:
Chr7:151876510
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Conflicting interpretations of pathogenicity
(Dec 27, 2016)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr7:151573647
GRCh38:
Chr7:151876562
PRKAG2Glycogen storage disease of heart, lethal congenital, not specified, Wolff-Parkinson-White syndrome,
Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Benign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr7:151573664
GRCh38:
Chr7:151876579
PRKAG2not specifiedLikely benign
(Apr 12, 2011)
criteria provided, single submitter
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