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Links from MedGen

Items: 1 to 100 of 209

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:16606542-16606940
CALR3Hypertrophic cardiomyopathy 19Uncertain significance
(Oct 2, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr19:16594840
GRCh38:
Chr19:16484029
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Aug 21, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr19:16594811
GRCh38:
Chr19:16484000
CALR3T203IHypertrophic cardiomyopathy 19Uncertain significance
(Jun 29, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr19:16589963
GRCh38:
Chr19:16479152
CALR3F378LHypertrophic cardiomyopathy 19Uncertain significance
(Oct 4, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr19:16590033
GRCh38:
Chr19:16479222
CALR3A355VHypertrophic cardiomyopathy 19Uncertain significance
(Dec 24, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr19:16591444
GRCh38:
Chr19:16480633
CALR3A331VHypertrophic cardiomyopathy 19, Inborn genetic diseasesUncertain significance
(Jun 12, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr19:16590054
GRCh38:
Chr19:16479243
CALR3A348DHypertrophic cardiomyopathy 19Uncertain significance
(Feb 28, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:16590039
GRCh38:
Chr19:16479228
CALR3K353RHypertrophic cardiomyopathy 19Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr19:16596048
GRCh38:
Chr19:16485237
CALR3D140YHypertrophic cardiomyopathy 19Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr19:16606911
GRCh38:
Chr19:16496100
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Feb 12, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr19:16601394
GRCh38:
Chr19:16490583
CALR3Hypertrophic cardiomyopathy 19Benign
(Sep 14, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr19:16591495
GRCh38:
Chr19:16480684
CALR3D314GHypertrophic cardiomyopathy 19Uncertain significance
(May 12, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:16593319
GRCh38:
Chr19:16482508
CALR3T287MHypertrophic cardiomyopathy 19Uncertain significance
(May 4, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr19:16593496
GRCh38:
Chr19:16482685
CALR3P260LHypertrophic cardiomyopathy 19Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr19:16601165
GRCh38:
Chr19:16490354
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Oct 17, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr19:16594903
GRCh38:
Chr19:16484092
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Feb 22, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:16594815
GRCh38:
Chr19:16484004
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Feb 18, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:16590061
GRCh38:
Chr19:16479250
CALR3I346VHypertrophic cardiomyopathy 19Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:16596000
GRCh38:
Chr19:16485189
CALR3E156QHypertrophic cardiomyopathy 19Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:16601337
GRCh38:
Chr19:16490526
CALR3R80CHypertrophic cardiomyopathy 19Uncertain significance
(Dec 24, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr19:16591414
GRCh38:
Chr19:16480603
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jun 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr19:16593585
GRCh38:
Chr19:16482774
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Feb 25, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:16593474-16593475
GRCh38:
Chr19:16482663-16482664
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Mar 8, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr19:16589984
GRCh38:
Chr19:16479173
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jan 22, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:16601171
GRCh38:
Chr19:16490360
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Dec 23, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr19:16593532
GRCh38:
Chr19:16482721
CALR3D248AHypertrophic cardiomyopathy 19Uncertain significance
(Jun 1, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:16593594
GRCh38:
Chr19:16482783
CALR3D227EHypertrophic cardiomyopathy 19Uncertain significance
(Aug 7, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr19:16594796
GRCh38:
Chr19:16483985
CALR3E208AHypertrophic cardiomyopathy 19Uncertain significance
(Dec 21, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr19:16594752
GRCh38:
Chr19:16483941
CALR3N223DHypertrophic cardiomyopathy 19Uncertain significance
(Jun 9, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr19:16591434
GRCh38:
Chr19:16480623
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Mar 4, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr19:16606561
GRCh38:
Chr19:16495750
CALR3Hypertrophic cardiomyopathy 19Uncertain significance
(Jun 24, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr19:16593283
GRCh38:
Chr19:16482472
CALR3A299VHypertrophic cardiomyopathy 19Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr19:16593551
GRCh38:
Chr19:16482740
CALR3D242HHypertrophic cardiomyopathy 19Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:16596088
GRCh38:
Chr19:16485277
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Apr 22, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr19:16601167
GRCh38:
Chr19:16490356
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Sep 11, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr19:16594832
GRCh38:
Chr19:16484021
CALR3I196THypertrophic cardiomyopathy 19Uncertain significance
(Dec 23, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr19:16594902
GRCh38:
Chr19:16484091
CALR3T173AHypertrophic cardiomyopathy 19Uncertain significance
(Jan 15, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr19:16594745
GRCh38:
Chr19:16483934
CALR3A225VHypertrophic cardiomyopathy 19Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:16594941
GRCh38:
Chr19:16484130
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Mar 10, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:16593403
GRCh38:
Chr19:16482592
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Aug 25, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr19:16594792
GRCh38:
Chr19:16483981
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Mar 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:16601188
GRCh38:
Chr19:16490377
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Sep 18, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr19:16593480
GRCh38:
Chr19:16482669
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Sep 15, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr19:16593498
GRCh38:
Chr19:16482687
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jul 15, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr19:16593471
GRCh38:
Chr19:16482660
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Apr 19, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:16601326
GRCh38:
Chr19:16490515
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jul 19, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr19:16596079
GRCh38:
Chr19:16485268
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Oct 24, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr19:16591413
GRCh38:
Chr19:16480602
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jul 5, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:16593245
GRCh38:
Chr19:16482434
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Mar 2, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr19:16596085
GRCh38:
Chr19:16485274
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jul 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:16590017
GRCh38:
Chr19:16479206
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Aug 1, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr19:16593330
GRCh38:
Chr19:16482519
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Aug 21, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:16590002
GRCh38:
Chr19:16479191
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Dec 24, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr19:16596077
GRCh38:
Chr19:16485266
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jun 12, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr19:16606562-16606563
GRCh38:
Chr19:16495751-16495752
CALR3G65fsHypertrophic cardiomyopathy 19Uncertain significance
(Mar 28, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr19:16601266
GRCh38:
Chr19:16490455
CALR3M103IHypertrophic cardiomyopathy 19Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr19:16596000
GRCh38:
Chr19:16485189
CALR3E156KHypertrophic cardiomyopathy 19Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr19:16590030
GRCh38:
Chr19:16479219
CALR3R356HHypertrophic cardiomyopathy 19Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr19:16606561
GRCh38:
Chr19:16495750
CALR3Hypertrophic cardiomyopathy 19Uncertain significance
(Oct 14, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr19:16601298
GRCh38:
Chr19:16490487
CALR3I93VHypertrophic cardiomyopathy 19Uncertain significance
(Aug 14, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr19:16596021
GRCh38:
Chr19:16485210
CALR3H149YHypertrophic cardiomyopathy 19Uncertain significance
(Oct 27, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr19:16593547
GRCh38:
Chr19:16482736
CALR3W243*Hypertrophic cardiomyopathy 19Uncertain significance
(Jul 16, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:16593486
GRCh38:
Chr19:16482675
CALR3Hypertrophic cardiomyopathy 19Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr19:16591474
GRCh38:
Chr19:16480663
CALR3D321GHypertrophic cardiomyopathy 19Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr19:16606642
GRCh38:
Chr19:16495831
CALR3L38WHypertrophic cardiomyopathy 19, Inborn genetic diseasesUncertain significance
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr19:16593552
GRCh38:
Chr19:16482741
CALR3S241RHypertrophic cardiomyopathy 19Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr19:16596045
GRCh38:
Chr19:16485234
CALR3I141VHypertrophic cardiomyopathy 19Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr19:16601301
GRCh38:
Chr19:16490490
CALR3V92IHypertrophic cardiomyopathy 19Uncertain significance
(Sep 15, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr19:16606907
GRCh38:
Chr19:16496096
CALR3C12GHypertrophic cardiomyopathy 19Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr19:16606597
GRCh38:
Chr19:16495786
CALR3S53LHypertrophic cardiomyopathy 19Uncertain significance
(Aug 7, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr19:16601277
GRCh38:
Chr19:16490466
CALR3E100KHypertrophic cardiomyopathy 19Uncertain significance
(May 25, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr19:16601349
GRCh38:
Chr19:16490538
CALR3A76THypertrophic cardiomyopathy 19Uncertain significance
(Jul 27, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr19:16591513
GRCh38:
Chr19:16480702
CALR3R308IInborn genetic diseases, Hypertrophic cardiomyopathy 19Uncertain significance
(Apr 27, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr19:16606936-16606953
GRCh38:
Chr19:16496125-16496142
CALR3Hypertrophic cardiomyopathy 19Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr19:16594817
GRCh38:
Chr19:16484006
CALR3N201SHypertrophic cardiomyopathy 19Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:16593241-16606940
CALR3Hypertrophic cardiomyopathy 19Uncertain significance
(Jul 2, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr19:16601158-16601401
CALR3Hypertrophic cardiomyopathy 19Uncertain significance
(Mar 22, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr19:16593572
GRCh38:
Chr19:16482761
CALR3A235THypertrophic cardiomyopathy 19Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr19:16594919
GRCh38:
Chr19:16484108
CALR3G167DHypertrophic cardiomyopathy 19Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr19:16594874
GRCh38:
Chr19:16484063
CALR3Y182CHypertrophic cardiomyopathy 19Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr19:16606616
GRCh38:
Chr19:16495805
CALR3G47RHypertrophic cardiomyopathy 19Uncertain significance
(Feb 18, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr19:16594892-16594899
GRCh38:
Chr19:16484081-16484088
CALR3L174fsHypertrophic cardiomyopathy 19Uncertain significance
(Jul 26, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr19:16606658
GRCh38:
Chr19:16495847
CALR3W33RHypertrophic cardiomyopathy 19Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr19:16591513
GRCh38:
Chr19:16480702
CALR3R308KHypertrophic cardiomyopathy 19Uncertain significance
(Dec 3, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr19:16594884
GRCh38:
Chr19:16484073
CALR3D179YHypertrophic cardiomyopathy 19Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr19:16601191
GRCh38:
Chr19:16490380
CALR3Y128*Hypertrophic cardiomyopathy 19Uncertain significance
(Aug 23, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr19:16601351
GRCh38:
Chr19:16490540
CALR3Y75FHypertrophic cardiomyopathy 19Uncertain significance
(Aug 4, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr19:16594787
GRCh38:
Chr19:16483976
CALR3P211LHypertrophic cardiomyopathy 19Uncertain significance
(Oct 19, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr19:16593399-16593400
GRCh38:
Chr19:16482588-16482589
CALR3Hypertrophic cardiomyopathy 19Benign
(Jul 8, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr19:16596072
GRCh38:
Chr19:16485261
CALR3Hypertrophic cardiomyopathy 19Benign
(Jul 19, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr19:16601302
GRCh38:
Chr19:16490491
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jul 25, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:16601304
GRCh38:
Chr19:16490493
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Aug 14, 2020)
criteria provided, single submitter
93.
GRCh37:
Chr19:16593363
GRCh38:
Chr19:16482552
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Aug 16, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr19:16594771
GRCh38:
Chr19:16483960
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jun 13, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr19:16590002
GRCh38:
Chr19:16479191
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Apr 10, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr19:16593514
GRCh38:
Chr19:16482703
CALR3P254LHypertrophic cardiomyopathy 19Likely benign
(Jul 19, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr19:16601230
GRCh38:
Chr19:16490419
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Feb 24, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr19:16606599
GRCh38:
Chr19:16495788
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Aug 23, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr19:16601197
GRCh38:
Chr19:16490386
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Oct 22, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr19:16589945
GRCh38:
Chr19:16479134
CALR3Hypertrophic cardiomyopathy 19Likely benign
(Jun 21, 2020)
criteria provided, single submitter
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