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Items: 1 to 100 of 260

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
CASQ2not specifiedLikely benign
(Oct 24, 2018)
criteria provided, single submitterVCV000667080
2.
GRCh37:
Chr1:116238478
GRCh38:
Chr1:115695857
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292075
3.
GRCh37:
Chr1:116238504
GRCh38:
Chr1:115695883
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292076
4.
GRCh37:
Chr1:116239266
GRCh38:
Chr1:115696645
VANGL1, CASQ2Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292084
5.
GRCh37:
Chr1:116239368
GRCh38:
Chr1:115696747
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292088
6.
GRCh37:
Chr1:116239633
GRCh38:
Chr1:115697012
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292093
7.
GRCh37:
Chr1:116239751
GRCh38:
Chr1:115697130
VANGL1, CASQ2Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292095
8.
GRCh37:
Chr1:116239841
GRCh38:
Chr1:115697220
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292097
9.
GRCh37:
Chr1:116239995
GRCh38:
Chr1:115697374
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292101
10.
GRCh37:
Chr1:116240026
GRCh38:
Chr1:115697405
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292102
11.
GRCh37:
Chr1:116240199
GRCh38:
Chr1:115697578
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292105
12.
GRCh37:
Chr1:116240212
GRCh38:
Chr1:115697591
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292106
13.
GRCh37:
Chr1:116240321
GRCh38:
Chr1:115697700
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292107
14.
GRCh37:
Chr1:116240721
GRCh38:
Chr1:115698100
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292112
15.
GRCh37:
Chr1:116240763
GRCh38:
Chr1:115698142
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292113
16.
GRCh37:
Chr1:116242672-116242675
GRCh38:
Chr1:115700051-115700054
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292114
17.
GRCh37:
Chr1:116242738-116242739
GRCh38:
Chr1:115700117-115700118
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292115
18.
GRCh37:
Chr1:116242810
GRCh38:
Chr1:115700189
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292116
19.
GRCh37:
Chr1:116242845
GRCh38:
Chr1:115700224
CASQ2, VANGL1Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292118
20.
GRCh37:
Chr1:116242845
GRCh38:
Chr1:115700224
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292117
21.
GRCh37:
Chr1:116242933
GRCh38:
Chr1:115700312
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292119
22.
GRCh37:
Chr1:116243230
GRCh38:
Chr1:115700609
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Benign/Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292120
23.
GRCh37:
Chr1:116243359
GRCh38:
Chr1:115700738
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292121
24.
GRCh37:
Chr1:116243380
GRCh38:
Chr1:115700759
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Benign/Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292122
25.
GRCh37:
Chr1:116243405
GRCh38:
Chr1:115700784
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292123
26.
GRCh37:
Chr1:116243719
GRCh38:
Chr1:115701098
CASQ2, VANGL1Neural tube defect, Caudal dysgenesis syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368821
27.
GRCh37:
Chr1:116243724
GRCh38:
Chr1:115701103
CASQ2, VANGL1Catecholaminergic polymorphic ventricular tachycardia, Caudal dysgenesis syndrome, Neural tube defect
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292124
28.
GRCh37:
Chr1:116243866-116243868
GRCh38:
Chr1:115701245-115701247
CASQ2not specifiedLikely benign
(Nov 15, 2017)
criteria provided, single submitterVCV000513407
29.
GRCh37:
Chr1:116243866-116243868
GRCh38:
Chr1:115701245-115701247
CASQ2D398delnot specifiedLikely benign
(Nov 14, 2016)
criteria provided, single submitterVCV000190752
30.
GRCh37:
Chr1:116243868
GRCh38:
Chr1:115701247
CASQ2, VANGL1Caudal dysgenesis syndrome, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia,
not specified, Ventricular tachycardia, catecholaminergic polymorphic, 2, Neural tube defect
Benign/Likely benign
(Nov 17, 2016)
criteria provided, multiple submitters, no conflictsVCV000044159
31.
GRCh37:
Chr1:116243874
GRCh38:
Chr1:115701253
CASQ2Catecholaminergic polymorphic ventricular tachycardiaLikely benign
(Dec 21, 2015)
criteria provided, single submitterVCV000238669
32.
GRCh37:
Chr1:116243875-116243877
GRCh38:
Chr1:115701254-115701256
CASQ2D398delCardiovascular phenotype, Dilated cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia,
not specified, not provided, Cardiomyopathy,
Ventricular tachycardia, catecholaminergic polymorphic, 2
Conflicting interpretations of pathogenicity
(May 14, 2019)
criteria provided, conflicting interpretationsVCV000044158
33.
GRCh37:
Chr1:116243876
GRCh38:
Chr1:115701255
CASQ2D396NCatecholaminergic polymorphic ventricular tachycardia, not providedUncertain significance
(May 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000191439
34.
GRCh37:
Chr1:116243877
GRCh38:
Chr1:115701256
CASQ2D395fsnot providedLikely benign
(Dec 22, 2011)
criteria provided, single submitterVCV000190739
35.
GRCh37:
Chr1:116243877
GRCh38:
Chr1:115701256
VANGL1, CASQ2Caudal dysgenesis syndrome, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia,
not specified, Ventricular tachycardia, catecholaminergic polymorphic, 2, Neural tube defect
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000044157
36.
GRCh37:
Chr1:116243881-116243883
GRCh38:
Chr1:115701260-115701262
CASQ2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitterVCV000191440
37.
GRCh37:
Chr1:116243894
GRCh38:
Chr1:115701273
CASQ2N390DCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Aug 10, 2018)
criteria provided, single submitterVCV000643779
38.
GRCh37:
Chr1:116243912
GRCh38:
Chr1:115701291
CASQ2N384DCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Apr 3, 2017)
criteria provided, single submitterVCV000463659
39.
GRCh37:
Chr1:116243913-116243915
GRCh38:
Chr1:115701292-115701294
CASQ2not specified, not providedUncertain significance
(Mar 14, 2014)
criteria provided, single submitterVCV000179599
40.
GRCh37:
Chr1:116243913-116243915
GRCh38:
Chr1:115701292-115701294
CASQ2D383delCatecholaminergic polymorphic ventricular tachycardia, not specified, Cardiomyopathy
Uncertain significance
(Oct 29, 2016)
criteria provided, multiple submitters, no conflictsVCV000044155
41.
GRCh37:
Chr1:116243914
GRCh38:
Chr1:115701293
CASQ2D383Gnot specifiedUncertain significance
(May 15, 2012)
criteria provided, single submitterVCV000044156
42.
GRCh37:
Chr1:116243928
GRCh38:
Chr1:115701307
CASQ2D378Enot specifiedLikely benign
(Mar 4, 2015)
criteria provided, single submitterVCV000227209
43.
GRCh37:
Chr1:116243929-116243931
GRCh38:
Chr1:115701308-115701310
CASQ2E377delCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(May 11, 2017)
criteria provided, single submitterVCV000463658
44.
GRCh37:
Chr1:116243931
GRCh38:
Chr1:115701310
CASQ2E377DCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia, not specified
Conflicting interpretations of pathogenicity
(Nov 28, 2018)
criteria provided, conflicting interpretationsVCV000162809
45.
GRCh37:
Chr1:116243932-116243934
GRCh38:
Chr1:115701311-115701313
CASQ2D376delCatecholaminergic polymorphic ventricular tachycardia, not specifiedUncertain significance
(Jul 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000520464
46.
GRCh37:
Chr1:116243935
GRCh38:
Chr1:115701314
CASQ2D376Gnot providedUncertain significance
(Nov 18, 2014)
criteria provided, single submitterVCV000190756
47.
GRCh37:
Chr1:116243941
GRCh38:
Chr1:115701320
CASQ2D374GCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Nov 16, 2017)
criteria provided, single submitterVCV000532349
48.
GRCh37:
Chr1:116243941
GRCh38:
Chr1:115701320
CASQ2D374VCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292125
49.
GRCh37:
Chr1:116243942
GRCh38:
Chr1:115701321
CASQ2D374NCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292126
50.
GRCh37:
Chr1:116243972
GRCh38:
Chr1:115701351
CASQ2not specifiedUncertain significance
(May 2, 2012)
criteria provided, single submitterVCV000044154
51.
GRCh37:
Chr1:116243977
GRCh38:
Chr1:115701356
CASQ2I362Tnot specifiedUncertain significance
(Jul 19, 2018)
criteria provided, single submitterVCV000633143
52.
GRCh37:
Chr1:116243980
GRCh38:
Chr1:115701359
CASQ2W361Snot providedLikely pathogenic
(May 15, 2014)
criteria provided, single submitterVCV000190748
53.
GRCh37:
Chr1:116244010
GRCh38:
Chr1:115701389
CASQ2D351GCatecholaminergic polymorphic ventricular tachycardia, not provided, Cardiomyopathy
Uncertain significance
(Oct 26, 2017)
criteria provided, multiple submitters, no conflictsVCV000191441
54.
GRCh37:
Chr1:116244016
GRCh38:
Chr1:115701395
CASQ2D349VCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Oct 31, 2016)
criteria provided, single submitterVCV000408870
55.
GRCh37:
Chr1:116244036
GRCh38:
Chr1:115701415
CASQ2not specifiedLikely benign
(May 6, 2016)
criteria provided, single submitterVCV000505012
56.
GRCh37:
Chr1:116244050
GRCh38:
Chr1:115701429
CASQ2not specified, Catecholaminergic polymorphic ventricular tachycardiaConflicting interpretations of pathogenicity
(Feb 26, 2016)
criteria provided, conflicting interpretationsVCV000238668
57.
GRCh37:
Chr1:116244057
GRCh38:
Chr1:115701436
CASQ2Catecholaminergic polymorphic ventricular tachycardiaLikely benign
(Mar 8, 2017)
criteria provided, single submitterVCV000463657
58.
GRCh37:
Chr1:116244166
GRCh38:
Chr1:115701545
CASQ2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000672367
59.
GRCh37:
Chr1:116244298
GRCh38:
Chr1:115701677
CASQ2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000683840
60.
GRCh37:
Chr1:116245533
GRCh38:
Chr1:115702912
CASQ2, VANGL1Caudal dysgenesis syndrome, not specified, Ventricular tachycardia, catecholaminergic polymorphic, 2,
Neural tube defect, Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy
Benign/Likely benign
(Dec 21, 2017)
criteria provided, multiple submitters, no conflictsVCV000044153
61.
GRCh37:
Chr1:116245545
GRCh38:
Chr1:115702924
CASQ2Catecholaminergic polymorphic ventricular tachycardiaLikely benign
(Jan 8, 2018)
criteria provided, single submitterVCV000238667
62.
GRCh37:
Chr1:116245550
GRCh38:
Chr1:115702929
CASQ2V336ICatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292127
63.
GRCh37:
Chr1:116245551
GRCh38:
Chr1:115702930
VANGL1, CASQ2Caudal dysgenesis syndrome, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia,
not specified, Cardiomyopathy, Ventricular tachycardia, catecholaminergic polymorphic, 2,
Neural tube defect
Benign/Likely benign
(Dec 21, 2017)
criteria provided, multiple submitters, no conflictsVCV000044152
64.
GRCh37:
Chr1:116245571
GRCh38:
Chr1:115702950
CASQ2P329SCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia, not provided
Uncertain significance
(Nov 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000190747
65.
GRCh37:
Chr1:116245613
GRCh38:
Chr1:115702992
CASQ2V315ICardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 5, 2017)
criteria provided, multiple submitters, no conflictsVCV000292128
66.
GRCh37:
Chr1:116245617
GRCh38:
Chr1:115702996
CASQ2Catecholaminergic polymorphic ventricular tachycardiaLikely pathogenic
(Apr 13, 2015)
criteria provided, single submitterVCV000228247
67.
GRCh37:
Chr1:116245655
GRCh38:
Chr1:115703034
CASQ2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000670942
68.
GRCh37:
Chr1:116245676
GRCh38:
Chr1:115703055
CASQ2not providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000675505
69.
GRCh37:
Chr1:116245809
GRCh38:
Chr1:115703188
CASQ2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000672186
70.
GRCh37:
Chr1:116245899
GRCh38:
Chr1:115703278
CASQ2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683295
71.
GRCh37:
Chr1:116247535
GRCh38:
Chr1:115704914
CASQ2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683294
72.
GRCh37:
Chr1:116247545
GRCh38:
Chr1:115704924
CASQ2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000669805
73.
GRCh37:
Chr1:116247557
GRCh38:
Chr1:115704936
CASQ2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000683839
74.
GRCh37:
Chr1:116247557
GRCh38:
Chr1:115704936
CASQ2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683293
75.
GRCh37:
Chr1:116247623
GRCh38:
Chr1:115705002
CASQ2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000675521
76.
GRCh37:
Chr1:116247681
GRCh38:
Chr1:115705060
CASQ2not providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000675504
77.
GRCh37:
Chr1:116247790
GRCh38:
Chr1:115705169
CASQ2not specifiedBenigncriteria provided, single submitterVCV000257653
78.
GRCh37:
Chr1:116247812
GRCh38:
Chr1:115705191
CASQ2Cardiovascular phenotypePathogenic
(Aug 4, 2017)
criteria provided, single submitterVCV000519365
79.
GRCh37:
Chr1:116247824
GRCh38:
Chr1:115705203
CASQ2D310NCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia, not specified,
not provided
Conflicting interpretations of pathogenicity
(Sep 17, 2018)
criteria provided, conflicting interpretationsVCV000162810
80.
GRCh37:
Chr1:116247826
GRCh38:
Chr1:115705205
CASQ2D309GCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292129
81.
GRCh37:
Chr1:116247828
GRCh38:
Chr1:115705207
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Aug 22, 2018)
criteria provided, single submitterVCV000651120
82.
GRCh37:
Chr1:116247829
GRCh38:
Chr1:115705208
CASQ2P308LCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia, not provided
Pathogenic/Likely pathogenic
(Aug 4, 2017)
criteria provided, multiple submitters, no conflictsVCV000190755
83.
GRCh37:
Chr1:116247829
GRCh38:
Chr1:115705208
CASQ2P308Qnot specifiedUncertain significance
(Jan 28, 2014)
criteria provided, single submitterVCV000162811
84.
GRCh37:
Chr1:116247833
GRCh38:
Chr1:115705212
CASQ2D307HVentricular tachycardia, catecholaminergic polymorphic, 2Pathogenic
(Feb 16, 2012)
no assertion criteria providedVCV000017610
85.
GRCh37:
Chr1:116247854
GRCh38:
Chr1:115705233
CASQ2D300NCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Dec 16, 2017)
criteria provided, multiple submitters, no conflictsVCV000518768
86.
GRCh37:
Chr1:116247858
GRCh38:
Chr1:115705237
CASQ2N298KCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 11, 2018)
criteria provided, single submitterVCV000579620
87.
GRCh37:
Chr1:116247859
GRCh38:
Chr1:115705238
CASQ2N298SCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Apr 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000519436
88.
GRCh37:
Chr1:116247874
GRCh38:
Chr1:115705253
CASQ2R293Pnot providedUncertain significance
(Oct 21, 2014)
criteria provided, single submitterVCV000190746
89.
GRCh37:
Chr1:116247878
GRCh38:
Chr1:115705257
CASQ2A292SCatecholaminergic polymorphic ventricular tachycardia, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000228470
90.
GRCh37:
Chr1:116247891
GRCh38:
Chr1:115705270
CASQ2Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia, not specified
Benign/Likely benign
(Sep 26, 2017)
criteria provided, multiple submitters, no conflictsVCV000136657
91.
GRCh37:
Chr1:116247892
GRCh38:
Chr1:115705271
CASQ2I287NCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(May 29, 2018)
criteria provided, single submitterVCV000574983
92.
GRCh37:
Chr1:116247896
GRCh38:
Chr1:115705275
CASQ2E286*Catecholaminergic polymorphic ventricular tachycardiaPathogenic
(Dec 28, 2018)
criteria provided, single submitterVCV000651334
93.
GRCh37:
Chr1:116247897
GRCh38:
Chr1:115705276
CASQ2Catecholaminergic polymorphic ventricular tachycardia, not specifiedConflicting interpretations of pathogenicity
(Mar 27, 2017)
criteria provided, conflicting interpretationsVCV000292130
94.
GRCh37:
Chr1:116247906
GRCh38:
Chr1:115705285
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292131
95.
GRCh37:
Chr1:116247923
GRCh38:
Chr1:115705302
CASQ2Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Sep 21, 2018)
criteria provided, single submitterVCV000646072
96.
GRCh37:
Chr1:116260186
GRCh38:
Chr1:115717565
CASQ2not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000673495
97.
GRCh37:
Chr1:116260490
GRCh38:
Chr1:115717869
CASQ2I270Tnot providedLikely pathogenic
(Jun 11, 2012)
criteria provided, single submitterVCV000190745
98.
GRCh37:
Chr1:116260532
GRCh38:
Chr1:115717911
CASQ2not specifiedLikely benign
(Jun 5, 2017)
criteria provided, single submitterVCV000381148
99.
GRCh37:
Chr1:116260532
GRCh38:
Chr1:115717911
CASQ2not specified, Ventricular tachycardia, catecholaminergic polymorphic, 2Benign
(Sep 21, 2015)
criteria provided, multiple submitters, no conflictsVCV000257652
100.
GRCh37:
Chr1:116260544
GRCh38:
Chr1:115717923
CASQ2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000671743
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