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Items: 40

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:123573567-123573568
GRCh38:
Chr6:123252422-123252423
TRDNR656fsnot providedLikely pathogenic
(Feb 22, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr6:123594481
GRCh38:
Chr6:123273336
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely pathogenic
(Mar 24, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr6:123599472
GRCh38:
Chr6:123278327
TRDNE520*Catecholaminergic polymorphic ventricular tachycardia 5Likely pathogenic
(May 23, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr6:123673733
GRCh38:
Chr6:123352588
TRDNnot providedLikely pathogenic
(Jan 7, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr6:123703294
GRCh38:
Chr6:123382149
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely pathogenic
(Oct 4, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr6:123709697
GRCh38:
Chr6:123388552
TRDNnot providedLikely pathogenic
(Jan 31, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr6:123759209
GRCh38:
Chr6:123438064
TRDNE351fs, E352fsCatecholaminergic polymorphic ventricular tachycardia 5Likely pathogenic
(Sep 9, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr6:123825039
GRCh38:
Chr6:123503894
TRDNA208fsCatecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(Sep 12, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr6:123825044
GRCh38:
Chr6:123503899
TRDNQ205*Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5,
not provided, Catecholaminergic polymorphic ventricular tachycardia 1
Pathogenic
(Dec 8, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr6:123833484-123833485
GRCh38:
Chr6:123512339-123512340
TRDNK192fsCatecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(Aug 17, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr6:123833489-123833490
GRCh38:
Chr6:123512344-123512345
TRDNI190fsCatecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1Pathogenic/Likely pathogenic
(Dec 9, 2020)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr6:123837284-123837285
GRCh38:
Chr6:123516139-123516140
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely pathogenic
(Apr 29, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr6:123837295
GRCh38:
Chr6:123516150
TRDNE181*Catecholaminergic polymorphic ventricular tachycardia 1, not provided, Cardiovascular phenotype
Pathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr6:123837303-123837304
GRCh38:
Chr6:123516158-123516159
TRDNE178fsCardiovascular phenotypePathogenic
(May 12, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr6:123837305
GRCh38:
Chr6:123516160
TRDNE178fsCatecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1
Pathogenic/Likely pathogenic
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr6:123837307
GRCh38:
Chr6:123516162
TRDNK177*Catecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(Jul 17, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:123837328
GRCh38:
Chr6:123516183
TRDNG170*Catecholaminergic polymorphic ventricular tachycardia 5Pathogenic
(Sep 27, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:123837334
GRCh38:
Chr6:123516189
TRDNE168*Catecholaminergic polymorphic ventricular tachycardia 1Pathogenic/Likely pathogenic
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr6:123851684
GRCh38:
Chr6:123530539
TRDNQ151*Catecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(Jul 22, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:123851693-123851697
GRCh38:
Chr6:123530548-123530552
TRDNnot providedPathogenic
(Jul 10, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr6:123851695-123851696
GRCh38:
Chr6:123530550-123530551
TRDNK147fsCatecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(May 27, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:123868484
GRCh38:
Chr6:123547339
TRDNCatecholaminergic polymorphic ventricular tachycardia 5Likely pathogenic
(Jun 2, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:123868486
GRCh38:
Chr6:123547341
TRDNE142fsCatecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(Jul 3, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:123869598
GRCh38:
Chr6:123548453
TRDNCatecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
Likely pathogenic
(Mar 14, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:123869685
GRCh38:
Chr6:123548540
TRDNW102*Cardiovascular phenotypePathogenic
(Feb 8, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:123869698
GRCh38:
Chr6:123548553
TRDNE98fsCardiovascular phenotypePathogenic
(Mar 22, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:123892066
GRCh38:
Chr6:123570921
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(May 27, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:123892122-123892138
GRCh38:
Chr6:123570977-123570993
TRDNI54fsnot providedLikely pathogenic
(Sep 7, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr6:123892124
GRCh38:
Chr6:123570979
TRDNT59RCatecholaminergic polymorphic ventricular tachycardia 5Pathogenic
(Jun 15, 2012)
no assertion criteria provided
30.
GRCh37:
Chr6:123892209
GRCh38:
Chr6:123571064
TRDNV31fsCatecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(Jul 12, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr6:123892242-123892243
GRCh38:
Chr6:123571097-123571098
TRDNCardiovascular phenotypePathogenic
(Aug 29, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr6:123892244-123892247
GRCh38:
Chr6:123571099-123571102
TRDND18fsCardiovascular phenotype, not provided, Catecholaminergic polymorphic ventricular tachycardia 1,
Catecholaminergic polymorphic ventricular tachycardia 5
Pathogenic
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr6:123957870
GRCh38:
Chr6:123636725
TRDNCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5,
Catecholaminergic polymorphic ventricular tachycardia 1
Pathogenic
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr6:123957891-123957902
GRCh38:
Chr6:123636746-123636757
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely pathogenic
(Jan 18, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr6:123957898
GRCh38:
Chr6:123636753
TRDNCatecholaminergic polymorphic ventricular tachycardia 5Pathogenic
(May 3, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr6:123957919
GRCh38:
Chr6:123636774
TRDNM1TCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotypePathogenic
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr6:123539746-123957920
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Pathogenic
(Oct 28, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr6:123551934-123597121
TRDNnot providedPathogenic
(Mar 30, 2018)
no assertion criteria provided
39.
GRCh37:
Chr6:123815422-123951153
TRDNnot providedPathogenic
(Dec 11, 2017)
no assertion criteria provided
40.
TRDNCatecholaminergic polymorphic ventricular tachycardia 5Pathogenic
(Sep 16, 2021)
no assertion criteria provided
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