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Items: 1 to 100 of 175

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
JPH2Familial hypertrophic cardiomyopathy 17Pathogenic
(Jun 1, 2007)
no assertion criteria provided
2.
GRCh37:
Chr20:42742143
GRCh38:
Chr20:44113503
JPH2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr20:42743407
GRCh38:
Chr20:44114767
JPH2not specifiedLikely benign
(Dec 20, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr20:42743454
GRCh38:
Chr20:44114814
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Cardiovascular phenotype
Benign
(Sep 21, 2015)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr20:42743531
GRCh38:
Chr20:44114891
JPH2not specifiedLikely benign
(Jan 10, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr20:42744294
GRCh38:
Chr20:44115654
JPH2not specifiedLikely benign
(Feb 8, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr20:42744325
GRCh38:
Chr20:44115685
JPH2Cardiovascular phenotypeUncertain significance
(Aug 14, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr20:42744328
GRCh38:
Chr20:44115688
JPH2Cardiovascular phenotypeUncertain significance
(Nov 6, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr20:42744341
GRCh38:
Chr20:44115701
JPH2Hypertrophic cardiomyopathyLikely benign
(Mar 5, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr20:42744344
GRCh38:
Chr20:44115704
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Hypertrophic cardiomyopathy,
Cardiovascular phenotype
Benign/Likely benign
(Jul 28, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr20:42744350-42744367
GRCh38:
Chr20:44115710-44115727
JPH2Hypertrophic cardiomyopathyUncertain significance
(Oct 3, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr20:42744356-42744358
GRCh38:
Chr20:44115716-44115718
JPH2not specifiedUncertain significance
(May 10, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr20:42744364
GRCh38:
Chr20:44115724
JPH2not specified, not providedUncertain significance
(Apr 16, 2015)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr20:42744383
GRCh38:
Chr20:44115743
JPH2Cardiovascular phenotypeLikely benign
(May 25, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr20:42744419
GRCh38:
Chr20:44115779
JPH2not specified, Cardiovascular phenotypeUncertain significance
(Dec 30, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr20:42744421
GRCh38:
Chr20:44115781
JPH2not specifiedUncertain significance
(Aug 23, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr20:42744425
GRCh38:
Chr20:44115785
JPH2not specified, Cardiovascular phenotypeLikely benign
(Aug 29, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr20:42744463
GRCh38:
Chr20:44115823
JPH2not specified, Cardiovascular phenotypeUncertain significance
(Feb 13, 2018)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr20:42744468
GRCh38:
Chr20:44115828
JPH2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr20:42744507
GRCh38:
Chr20:44115867
JPH2Cardiovascular phenotypeLikely benign
(Jul 21, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr20:42744512
GRCh38:
Chr20:44115872
JPH2Hypertrophic cardiomyopathyLikely benign
(Aug 24, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr20:42744516
GRCh38:
Chr20:44115876
JPH2Cardiovascular phenotypeUncertain significance
(Dec 22, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr20:42744521
GRCh38:
Chr20:44115881
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Hypertrophic cardiomyopathy,
Cardiovascular phenotype
Benign/Likely benign
(Feb 6, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr20:42744544
GRCh38:
Chr20:44115904
JPH2not specifiedLikely benign
(Nov 22, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr20:42744557
GRCh38:
Chr20:44115917
JPH2not specifiedLikely benign
(Jun 22, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr20:42744565
GRCh38:
Chr20:44115925
JPH2not specified, Left ventricular noncompaction cardiomyopathyUncertain significance
(Apr 17, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr20:42744586
GRCh38:
Chr20:44115946
JPH2not specifiedLikely benign
(Oct 13, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr20:42744587
GRCh38:
Chr20:44115947
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Cardiovascular phenotype
Benign
(Jul 28, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr20:42744590
GRCh38:
Chr20:44115950
JPH2Cardiovascular phenotypeLikely benign
(Oct 7, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr20:42744591
GRCh38:
Chr20:44115951
JPH2not specifiedUncertain significance
(Oct 25, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr20:42744593
GRCh38:
Chr20:44115953
JPH2not specified, Hypertrophic cardiomyopathyLikely benign
(Oct 4, 2017)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr20:42744601
GRCh38:
Chr20:44115961
JPH2not specifiedUncertain significance
(Jul 6, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr20:42744611
GRCh38:
Chr20:44115971
JPH2not specified, Hypertrophic cardiomyopathyBenign/Likely benign
(Jul 10, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr20:42744626
GRCh38:
Chr20:44115986
JPH2not specifiedLikely benign
(Nov 1, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr20:42744650
GRCh38:
Chr20:44116010
JPH2not specifiedUncertain significance
(Jun 10, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr20:42744653
GRCh38:
Chr20:44116013
JPH2not specifiedLikely benign
(Dec 2, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr20:42744657
GRCh38:
Chr20:44116017
JPH2Hypertrophic cardiomyopathyUncertain significance
(Sep 23, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr20:42744660
GRCh38:
Chr20:44116020
JPH2not specifiedUncertain significance
(Jan 26, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr20:42744675
GRCh38:
Chr20:44116035
JPH2not specifiedUncertain significance
(Sep 14, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr20:42744680
GRCh38:
Chr20:44116040
JPH2not specifiedLikely benign
(Nov 4, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr20:42744712
GRCh38:
Chr20:44116072
JPH2Cardiovascular phenotypeUncertain significance
(Mar 16, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr20:42744726
GRCh38:
Chr20:44116086
JPH2Cardiovascular phenotypeUncertain significance
(Nov 19, 2013)
criteria provided, single submitter
43.
GRCh37:
Chr20:42744733
GRCh38:
Chr20:44116093
JPH2not specifiedUncertain significance
(Apr 28, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr20:42744734
GRCh38:
Chr20:44116094
JPH2not specifiedLikely benign
(Jan 11, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr20:42744749
GRCh38:
Chr20:44116109
JPH2not specified, Cardiovascular phenotypeLikely benign
(Mar 22, 2017)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr20:42744751
GRCh38:
Chr20:44116111
JPH2Primary dilated cardiomyopathyUncertain significance
(Sep 15, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr20:42744753
GRCh38:
Chr20:44116113
JPH2not specifiedUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr20:42744775
GRCh38:
Chr20:44116135
JPH2Left ventricular noncompaction cardiomyopathyUncertain significance
(Jun 4, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr20:42744802
GRCh38:
Chr20:44116162
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Hypertrophic cardiomyopathy,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Aug 1, 2017)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr20:42744818
GRCh38:
Chr20:44116178
JPH2Familial hypertrophic cardiomyopathy 17Likely benign
(Sep 21, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr20:42744829
GRCh38:
Chr20:44116189
JPH2Hypertrophic cardiomyopathyUncertain significance
(May 9, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr20:42744839
GRCh38:
Chr20:44116199
JPH2not specifiedLikely benign
(Oct 4, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr20:42744851
GRCh38:
Chr20:44116211
JPH2Hypertrophic cardiomyopathyUncertain significance
(Jun 9, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr20:42744861
GRCh38:
Chr20:44116221
JPH2not specifiedUncertain significance
(Apr 13, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr20:42744882
GRCh38:
Chr20:44116242
JPH2not specifiedUncertain significance
(Jan 16, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr20:42744884
GRCh38:
Chr20:44116244
JPH2not specifiedLikely benign
(Dec 8, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr20:42744891
GRCh38:
Chr20:44116251
JPH2not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(May 18, 2017)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr20:42744895
GRCh38:
Chr20:44116255
JPH2not specifiedUncertain significance
(Nov 9, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr20:42744905
GRCh38:
Chr20:44116265
JPH2not specifiedLikely benign
(Mar 6, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr20:42744905
GRCh38:
Chr20:44116265
JPH2not specifiedLikely benign
(Nov 3, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr20:42744921
GRCh38:
Chr20:44116281
JPH2Hypertrophic cardiomyopathy, Cardiovascular phenotypeUncertain significance
(Oct 13, 2017)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr20:42744935
GRCh38:
Chr20:44116295
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jun 29, 2017)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr20:42744951
GRCh38:
Chr20:44116311
JPH2Cardiovascular phenotypeUncertain significance
(Sep 20, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr20:42744952
GRCh38:
Chr20:44116312
JPH2Hypertrophic cardiomyopathyUncertain significance
(Jan 12, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr20:42744958
GRCh38:
Chr20:44116318
JPH2Cardiovascular phenotypeUncertain significance
(Aug 24, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr20:42744971
GRCh38:
Chr20:44116331
JPH2Cardiovascular phenotypeLikely benign
(Apr 9, 2013)
criteria provided, single submitter
67.
GRCh37:
Chr20:42745009
GRCh38:
Chr20:44116369
JPH2Hypertrophic cardiomyopathyUncertain significance
(Mar 1, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr20:42745023
GRCh38:
Chr20:44116383
JPH2not specifiedUncertain significance
(Jun 14, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr20:42745033
GRCh38:
Chr20:44116393
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Hypertrophic cardiomyopathy
Benign
(Jul 28, 2017)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr20:42747151
GRCh38:
Chr20:44118511
JPH2Primary dilated cardiomyopathyUncertain significance
(Nov 24, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr20:42747187
GRCh38:
Chr20:44118547
JPH2not specifiedUncertain significance
(May 2, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr20:42747200
GRCh38:
Chr20:44118560
JPH2Cardiovascular phenotypeLikely benign
(Aug 11, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr20:42747206
GRCh38:
Chr20:44118566
JPH2Primary dilated cardiomyopathyUncertain significance
(Sep 29, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr20:42747220
GRCh38:
Chr20:44118580
JPH2Familial hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(Dec 18, 2017)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr20:42747220
GRCh38:
Chr20:44118580
JPH2not provided, Hypertrophic cardiomyopathyConflicting interpretations of pathogenicity
(Apr 19, 2017)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr20:42747221
GRCh38:
Chr20:44118581
JPH2Cardiovascular phenotypeLikely benign
(Jun 3, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr20:42747229
GRCh38:
Chr20:44118589
JPH2not specified, Hypertrophic cardiomyopathyUncertain significance
(Jun 8, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr20:42747230
GRCh38:
Chr20:44118590
JPH2Cardiovascular phenotypeLikely benign
(Jul 17, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr20:42747247-42747248
GRCh38:
Chr20:44118607-44118608
JPH2Hypertrophic cardiomyopathyBenign
(Sep 6, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr20:42747247
GRCh38:
Chr20:44118607
JPH2Familial hypertrophic cardiomyopathy 17, Long QT syndrome, not specified,
Cardiovascular phenotype
Benign
(Jun 6, 2016)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr20:42747248
GRCh38:
Chr20:44118608
JPH2Cardiovascular phenotypeLikely benign
(Jun 30, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr20:42747254
GRCh38:
Chr20:44118614
JPH2Familial hypertrophic cardiomyopathy 17, not specified, Cardiovascular phenotype
Benign
(Sep 21, 2015)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr20:42747274
GRCh38:
Chr20:44118634
JPH2not specifiedLikely benign
(May 19, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr20:42788240
GRCh38:
Chr20:44159600
JPH2not specifiedLikely benign
(Sep 26, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr20:42788242
GRCh38:
Chr20:44159602
JPH2not specifiedLikely benign
(Feb 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr20:42788248
GRCh38:
Chr20:44159608
JPH2Familial hypertrophic cardiomyopathy 17, not specifiedLikely benign
(Jul 10, 2017)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr20:42788266
GRCh38:
Chr20:44159626
JPH2not specifiedLikely benign
(Nov 17, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr20:42788278
GRCh38:
Chr20:44159638
JPH2Hypertrophic cardiomyopathyLikely benign
(Nov 18, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr20:42788290
GRCh38:
Chr20:44159650
JPH2not specifiedLikely benign
(Apr 13, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr20:42788290
GRCh38:
Chr20:44159650
JPH2not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Benign/Likely benign
(Jul 18, 2017)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr20:42788320
GRCh38:
Chr20:44159680
JPH2not specified, Cardiovascular phenotypeBenign/Likely benign
(May 18, 2017)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr20:42788337
GRCh38:
Chr20:44159697
JPH2not specifiedUncertain significance
(Mar 18, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr20:42788349
GRCh38:
Chr20:44159709
JPH2not specifiedUncertain significance
(Mar 13, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr20:42788394
GRCh38:
Chr20:44159754
JPH2Hypertrophic cardiomyopathyUncertain significance
(Jun 3, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr20:42788412
GRCh38:
Chr20:44159772
JPH2Hypertrophic cardiomyopathy, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Jul 26, 2017)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr20:42788442
GRCh38:
Chr20:44159802
JPH2not specifiedUncertain significance
(Sep 12, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr20:42788449
GRCh38:
Chr20:44159809
JPH2Hypertrophic cardiomyopathyLikely benign
(May 23, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr20:42788455
GRCh38:
Chr20:44159815
JPH2Cardiovascular phenotypeLikely benign
(Dec 16, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr20:42788459
GRCh38:
Chr20:44159819
JPH2not specifiedUncertain significance
(Aug 17, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr20:42788483
GRCh38:
Chr20:44159843
JPH2not specifiedUncertain significance
(Jun 13, 2017)
criteria provided, single submitter
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