TRDN (triadin) - Rat Genome Database

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Gene: TRDN (triadin) Homo sapiens
Analyze
Symbol: TRDN
Name: triadin
RGD ID: 735791
HGNC Page HGNC:12261
Description: Predicted to enable protein-macromolecule adaptor activity and transmembrane transporter binding activity. Involved in heart contraction. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in catecholaminergic polymorphic ventricular tachycardia and catecholaminergic polymorphic ventricular tachycardia 5. Biomarker of dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CARDAR; CPVT5; dJ166D18.1 (triadin); DKFZp779I2253; MGC88285; TDN; triadin in skeletal muscle; TRISK; TRISK51
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386123,216,339 - 123,636,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6123,216,339 - 123,637,189 (-)EnsemblGRCh38hg38GRCh38
GRCh376123,537,484 - 123,958,095 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366123,579,182 - 123,999,641 (-)NCBINCBI36Build 36hg18NCBI36
Build 346123,580,714 - 123,999,641NCBI
Celera6124,281,651 - 124,701,991 (-)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6121,115,183 - 121,535,579 (-)NCBIHuRef
CHM1_16123,801,225 - 124,221,793 (-)NCBICHM1_1
T2T-CHM13v2.06124,404,293 - 124,824,746 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. On the role of junctin in cardiac Ca2+ handling, contractility, and heart failure. Gergs U, etal., Am J Physiol Heart Circ Physiol. 2007 Jul;293(1):H728-34. Epub 2007 Mar 30.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Roux-Buisson N, etal., Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.
Additional References at PubMed
PMID:7588753   PMID:7721813   PMID:8889548   PMID:9287354   PMID:9890886   PMID:10212196   PMID:10748065   PMID:11026130   PMID:11113462   PMID:11504710   PMID:12477932   PMID:12659871  
PMID:14638677   PMID:15840729   PMID:17081983   PMID:17526652   PMID:17569730   PMID:19403607   PMID:19567751   PMID:19890582   PMID:20301308   PMID:20301466   PMID:20379614   PMID:20414141  
PMID:21873635   PMID:24325401   PMID:25814554   PMID:25922419   PMID:26196381   PMID:26200674   PMID:26768964   PMID:27562070   PMID:28514442   PMID:29126880   PMID:30021884   PMID:30258100  
PMID:31182584   PMID:31437535   PMID:32296183   PMID:33692971   PMID:33961781   PMID:34349018   PMID:34415104   PMID:34736417   PMID:35481495   PMID:35575683   PMID:35862102   PMID:37071682  
PMID:37163978   PMID:38334954   PMID:39358380  


Genomics

Comparative Map Data
TRDN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386123,216,339 - 123,636,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6123,216,339 - 123,637,189 (-)EnsemblGRCh38hg38GRCh38
GRCh376123,537,484 - 123,958,095 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366123,579,182 - 123,999,641 (-)NCBINCBI36Build 36hg18NCBI36
Build 346123,580,714 - 123,999,641NCBI
Celera6124,281,651 - 124,701,991 (-)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6121,115,183 - 121,535,579 (-)NCBIHuRef
CHM1_16123,801,225 - 124,221,793 (-)NCBICHM1_1
T2T-CHM13v2.06124,404,293 - 124,824,746 (-)NCBIT2T-CHM13v2.0
Trdn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391032,959,479 - 33,352,705 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1032,956,550 - 33,352,705 (+)EnsemblGRCm39 Ensembl
GRCm381033,083,483 - 33,476,709 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1033,080,554 - 33,476,709 (+)EnsemblGRCm38mm10GRCm38
MGSCv371032,803,289 - 33,196,515 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361032,772,897 - 32,923,408 (+)NCBIMGSCv36mm8
Celera1033,991,863 - 34,385,108 (+)NCBICelera
Cytogenetic Map10A4NCBI
cM Map1018.37NCBI
Trdn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8125,774,765 - 26,230,069 (-)NCBIGRCr8
mRatBN7.2123,955,651 - 24,410,494 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl123,955,651 - 24,410,595 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx123,712,731 - 24,162,882 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0129,712,475 - 30,162,651 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0123,909,818 - 24,359,973 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0125,403,390 - 25,787,664 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl125,403,390 - 25,839,345 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0126,865,461 - 27,248,423 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4124,514,752 - 24,925,948 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1124,517,697 - 24,980,460 (-)NCBI
Celera122,661,681 - 23,059,882 (-)NCBICelera
Cytogenetic Map1p12-p11NCBI
Trdn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554364,963,945 - 5,266,727 (-)NCBIChiLan1.0ChiLan1.0
TRDN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25143,213,514 - 143,630,282 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16141,115,209 - 141,534,159 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06121,010,234 - 121,424,644 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16125,133,827 - 125,546,854 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6125,134,433 - 125,546,537 (-)Ensemblpanpan1.1panPan2
TRDN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1162,402,763 - 62,762,717 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl162,402,642 - 62,762,722 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha163,211,629 - 63,571,581 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0162,604,717 - 62,967,214 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl162,606,830 - 62,967,138 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1162,540,244 - 62,899,794 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0162,328,116 - 62,688,183 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0162,976,846 - 63,337,432 (-)NCBIUU_Cfam_GSD_1.0
LOC101962457
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946113,572,732 - 113,686,223 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936802389,653 - 637,372 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRDN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl139,180,913 - 39,567,240 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1139,180,544 - 39,567,245 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2143,518,886 - 43,723,161 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRDN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11350,145,787 - 50,580,397 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604022,476,403 - 22,891,592 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trdn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247987,780,362 - 8,018,719 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRDN
1130 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006073.4(TRDN):c.665T>G (p.Val222Gly) single nucleotide variant Cardiovascular phenotype [RCV002367839]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526111] Chr6:123503847 [GRCh38]
Chr6:123824992 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser) single nucleotide variant Cardiovascular phenotype [RCV002420326]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525253]|not provided [RCV000523233] Chr6:123218698 [GRCh38]
Chr6:123539843 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile) single nucleotide variant Cardiovascular phenotype [RCV002413506]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103805]|not provided [RCV001545766] Chr6:123260632 [GRCh38]
Chr6:123581777 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe) single nucleotide variant Cardiovascular phenotype [RCV000621197]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525128]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003224305]|TRDN-related disorder [RCV003925557]|not specified [RCV000519947] Chr6:123548606 [GRCh38]
Chr6:123869751 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.573dup (p.Lys192fs) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529887] Chr6:123512339..123512340 [GRCh38]
Chr6:123833484..123833485 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.803C>T (p.Ala268Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529897] Chr6:123497243 [GRCh38]
Chr6:123818388 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) single nucleotide variant Cardiovascular phenotype [RCV002386038]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529900]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001784216]|not provided [RCV000760326] Chr6:123366174 [GRCh38]
Chr6:123687319 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.109A>T (p.Thr37Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000639063] Chr6:123571046 [GRCh38]
Chr6:123892191 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123539726)_(123957940_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV000639198] Chr6:123218581..123636795 [GRCh38]
Chr6:123539726..123957940 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1906+167A>G single nucleotide variant not provided [RCV001571989] Chr6:123255700 [GRCh38]
Chr6:123576845 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1420+1G>T single nucleotide variant Cardiovascular phenotype [RCV002395255]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528268]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001783022]|not provided [RCV000519329] Chr6:123337618 [GRCh38]
Chr6:123658763 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln) single nucleotide variant Cardiovascular phenotype [RCV002404425]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526103] Chr6:123278318 [GRCh38]
Chr6:123599463 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1219+4A>G single nucleotide variant Cardiovascular phenotype [RCV000620525]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528385]|not provided [RCV001696945] Chr6:123377862 [GRCh38]
Chr6:123699007 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer) deletion Cardiovascular phenotype [RCV004023546]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525916]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003985018]|not provided [RCV000519867] Chr6:123530548..123530552 [GRCh38]
Chr6:123851693..123851697 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.3(TRDN):c.1951+1019C>A single nucleotide variant Lung cancer [RCV000096495] Chr6:123254062 [GRCh38]
Chr6:123575207 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.3(TRDN):c.1246+939G>T single nucleotide variant Lung cancer [RCV000096496] Chr6:123376777 [GRCh38]
Chr6:123697922 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.3(TRDN):c.853+9583T>A single nucleotide variant Lung cancer [RCV000096497] Chr6:123487610 [GRCh38]
Chr6:123808755 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) deletion Cardiovascular phenotype [RCV002345363]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513732]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV000056259]|not provided [RCV002223180] Chr6:123571099..123571102 [GRCh38]
Chr6:123892244..123892247 [GRCh37]
Chr6:6q22.31		 pathogenic
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33		 pathogenic
GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1 copy number loss See cases [RCV000052197] Chr6:118975015..125713307 [GRCh38]
Chr6:119296180..126034453 [GRCh37]
Chr6:119337879..126076146 [NCBI36]
Chr6:6q22.31		 pathogenic
GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3 copy number gain See cases [RCV000053387] Chr6:123206400..123959297 [GRCh38]
Chr6:123527545..124280442 [GRCh37]
Chr6:123569244..124322141 [NCBI36]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) single nucleotide variant Cardiovascular phenotype [RCV002354248]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002496743]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103726]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV000056260]|Catecholaminergic polymorphic ventricular tachycardia [RCV004017360]|not provided [RCV000484797] Chr6:123503899 [GRCh38]
Chr6:123825044 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.176C>G (p.Thr59Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV000056261] Chr6:123570979 [GRCh38]
Chr6:123892124 [GRCh37]
Chr6:6q22.31		 pathogenic
GRCh38/hg38 6q22.31(chr6:123352392-123845516)x3 copy number gain See cases [RCV000136997] Chr6:123352392..123845516 [GRCh38]
Chr6:123673537..124166661 [GRCh37]
Chr6:123715236..124208360 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1 copy number loss See cases [RCV000137174] Chr6:121829616..126154472 [GRCh38]
Chr6:122150762..126475618 [GRCh37]
Chr6:122192461..126517311 [NCBI36]
Chr6:6q22.31-22.32		 uncertain significance
GRCh38/hg38 6q22.31(chr6:123206400-123981401)x3 copy number gain See cases [RCV000137762] Chr6:123206400..123981401 [GRCh38]
Chr6:123527545..124302546 [GRCh37]
Chr6:123569244..124344245 [NCBI36]
Chr6:6q22.31		 likely benign
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 copy number gain See cases [RCV000137726] Chr6:117607147..126699980 [GRCh38]
Chr6:117928310..127021125 [GRCh37]
Chr6:118035003..127062818 [NCBI36]
Chr6:6q22.1-22.32		 pathogenic
GRCh38/hg38 6q22.31(chr6:123206369-123959291)x3 copy number gain See cases [RCV000139579] Chr6:123206369..123959291 [GRCh38]
Chr6:123527514..124280436 [GRCh37]
Chr6:123569213..124322135 [NCBI36]
Chr6:6q22.31		 likely benign
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q22.31(chr6:123188343-124008918)x3 copy number gain See cases [RCV000143453] Chr6:123188343..124008918 [GRCh38]
Chr6:123509488..124330063 [GRCh37]
Chr6:123551187..124371762 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3 copy number gain See cases [RCV000148083] Chr6:123206400..123959297 [GRCh38]
Chr6:123527545..124280442 [GRCh37]
Chr6:123569244..124322141 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31(chr6:123197871-124008917)x3 copy number gain See cases [RCV000143491] Chr6:123197871..124008917 [GRCh38]
Chr6:123519016..124330062 [GRCh37]
Chr6:123560715..124371761 [NCBI36]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*1909T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000260267] Chr6:123216692 [GRCh38]
Chr6:123537837 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003153667]|not provided [RCV000521408] Chr6:123388542 [GRCh38]
Chr6:123709687 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:123319117-123837319)x3 copy number gain Breast ductal adenocarcinoma [RCV000207173] Chr6:123319117..123837319 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1370-11C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517458]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001838559]|not specified [RCV000219551] Chr6:123337680 [GRCh38]
Chr6:123658825 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1597+10G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519618]|not specified [RCV000219616] Chr6:123274631 [GRCh38]
Chr6:123595776 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) single nucleotide variant Cardiovascular phenotype [RCV000618572]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517461]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001285326]|not provided [RCV001729460]|not specified [RCV000223604] Chr6:123273341 [GRCh38]
Chr6:123594486 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) single nucleotide variant Cardiovascular phenotype [RCV000618787]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519596]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV000987767]|not specified [RCV000215314] Chr6:123366143 [GRCh38]
Chr6:123687288 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1105+5G>A single nucleotide variant Cardiovascular phenotype [RCV000621311]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519595]|not specified [RCV000217193] Chr6:123393619 [GRCh38]
Chr6:123393619..123393620 [GRCh38]
Chr6:123714764 [GRCh37]
Chr6:123714764..123714765 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) single nucleotide variant Cardiovascular phenotype [RCV000620880]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515614]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001285970]|TRDN-related disorder [RCV003917890]|not specified [RCV000217458] Chr6:123438098 [GRCh38]
Chr6:123759243 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) single nucleotide variant Cardiovascular phenotype [RCV000618725]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517464]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001287240]|not provided [RCV002292492]|not specified [RCV000219825] Chr6:123547361 [GRCh38]
Chr6:123868506 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) single nucleotide variant Cardiovascular phenotype [RCV000618354]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519599]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003741164]|TRDN-related disorder [RCV003977606]|not provided [RCV001572730]|not specified [RCV000213504] Chr6:123530560 [GRCh38]
Chr6:123851705 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006073.4(TRDN):c.932-4C>G single nucleotide variant Cardiovascular phenotype [RCV000619863]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517466]|not specified [RCV000213604] Chr6:123439007 [GRCh38]
Chr6:123760152 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006073.4(TRDN):c.1871-15G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517462]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003741163]|not specified [RCV000220069] Chr6:123255917 [GRCh38]
Chr6:123577062 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) microsatellite Cardiovascular phenotype [RCV000621039]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517465]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001286069]|TRDN-related disorder [RCV003977607]|not provided [RCV001573409]|not specified [RCV000217883] Chr6:123516183..123516188 [GRCh38]
Chr6:123837328..123837333 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) single nucleotide variant Cardiovascular phenotype [RCV000621549]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517456]|not specified [RCV000218168] Chr6:123375621 [GRCh38]
Chr6:123696766 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) single nucleotide variant Cardiovascular phenotype [RCV000618482]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519594]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001286500]|not specified [RCV000214095] Chr6:123393633 [GRCh38]
Chr6:123714778 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1721-4A>G single nucleotide variant Cardiovascular phenotype [RCV000249813]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519598]|not provided [RCV000842112]|not specified [RCV000216034] Chr6:123269870 [GRCh38]
Chr6:123591015 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1472-12G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518216]|not provided [RCV001722169]|not specified [RCV000218470] Chr6:123316507 [GRCh38]
Chr6:123637652 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.601C>G (p.Leu201Val) single nucleotide variant Cardiovascular phenotype [RCV000620483]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515618]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001838561]|not specified [RCV000220833] Chr6:123512312 [GRCh38]
Chr6:123833457 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) single nucleotide variant Cardiovascular phenotype [RCV000618188]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517459]|not specified [RCV000222550] Chr6:123337631 [GRCh38]
Chr6:123658776 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala) single nucleotide variant Cardiovascular phenotype [RCV000621140]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518217]|not provided [RCV000766989]|not specified [RCV000222739] Chr6:123265321 [GRCh38]
Chr6:123586466 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.604_610+47del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518218]|not specified [RCV000216429] Chr6:123512256..123512309 [GRCh38]
Chr6:123833401..123833454 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2126C>A (p.Ala709Glu) single nucleotide variant not specified [RCV000221265] Chr6:123218665 [GRCh38]
Chr6:123539810 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.274G>A (p.Val92Ile) single nucleotide variant Cardiovascular phenotype [RCV000618057]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515617]|not specified [RCV000223000] Chr6:123548571 [GRCh38]
Chr6:123869716 [GRCh37]
Chr6:6q22.31		 likely pathogenic|benign|likely benign
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) single nucleotide variant Cardiovascular phenotype [RCV000620191]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518213]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003327383]|not provided [RCV000766958]|not specified [RCV000214726] Chr6:123352541 [GRCh38]
Chr6:123673686 [GRCh37]
Chr6:6q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.1369+3dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518214]|not specified [RCV000219043] Chr6:123352527..123352528 [GRCh38]
Chr6:123673672..123673673 [GRCh37]
Chr6:6q22.31		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.1188A>G (p.Lys396=) single nucleotide variant Cardiovascular phenotype [RCV000618667]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515615]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001838558]|not specified [RCV000221524] Chr6:123377897 [GRCh38]
Chr6:123699042 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) single nucleotide variant Cardiovascular phenotype [RCV000619786]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517457]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001286070]|TRDN-related disorder [RCV003977605]|not specified [RCV000221593] Chr6:123366143 [GRCh38]
Chr6:123687288 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006073.4(TRDN):c.84C>T (p.Pro28=) single nucleotide variant Cardiovascular phenotype [RCV002408928]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517512]|not provided [RCV001712096]|not specified [RCV000223183] Chr6:123571071 [GRCh38]
Chr6:123892216 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) single nucleotide variant Cardiovascular phenotype [RCV002347847]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002500718]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518215]|not provided [RCV001565966]|not specified [RCV000223286] Chr6:123377892 [GRCh38]
Chr6:123699037 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1538-13T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519597]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001000570]|not provided [RCV001722154]|not specified [RCV000215050] Chr6:123278360 [GRCh38]
Chr6:123599505 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) single nucleotide variant Cardiovascular phenotype [RCV000622137]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517463]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001838560]|not specified [RCV000216773] Chr6:123548462 [GRCh38]
Chr6:123869607 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.931+18del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519593]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003741162]|not provided [RCV001563524]|not specified [RCV000221715] Chr6:123464888 [GRCh38]
Chr6:123786033 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) single nucleotide variant Cardiovascular phenotype [RCV000619348]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515616]|not specified [RCV000215171] Chr6:123377874 [GRCh38]
Chr6:123699019 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) single nucleotide variant Cardiovascular phenotype [RCV002408934]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002494573]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519657]|not provided [RCV004017521] Chr6:123571030 [GRCh38]
Chr6:123892175 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1598-6dup duplication Cardiovascular phenotype [RCV000619188]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517460]|not provided [RCV000845432]|not specified [RCV000219371] Chr6:123273365..123273366 [GRCh38]
Chr6:123594510..123594511 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518345] Chr6:123224110 [GRCh38]
Chr6:123545255 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1056G>T (p.Pro352=) single nucleotide variant Cardiovascular phenotype [RCV000617640]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519795] Chr6:123393673 [GRCh38]
Chr6:123714818 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1083G>C (p.Gly361=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525888] Chr6:123393646 [GRCh38]
Chr6:123714791 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002494650]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518346]|TRDN-related disorder [RCV003977669]|not provided [RCV001556764] Chr6:123516189 [GRCh38]
Chr6:123837334 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys) single nucleotide variant Cardiovascular phenotype [RCV002418016]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519797]|not provided [RCV001658061] Chr6:123218660 [GRCh38]
Chr6:123539805 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487077]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519796]|not specified [RCV000607773] Chr6:123636759 [GRCh38]
Chr6:123957904 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) single nucleotide variant Cardiovascular phenotype [RCV002401893]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002500791]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516325]|not provided [RCV003327386] Chr6:123273009 [GRCh38]
Chr6:123594154 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1593A>G (p.Lys531=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529757]|not provided [RCV001718990] Chr6:123274645 [GRCh38]
Chr6:123595790 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.793+27G>A single nucleotide variant TRDN-related disorder [RCV003927951]|not provided [RCV003431137]|not specified [RCV000600239] Chr6:123503692 [GRCh38]
Chr6:123824837 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.196G>A (p.Val66Ile) single nucleotide variant Cardiovascular phenotype [RCV004023918]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526107]|not specified [RCV003403287] Chr6:123570959 [GRCh38]
Chr6:123892104 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1729A>G (p.Lys577Glu) single nucleotide variant Cardiovascular phenotype [RCV002413411]|not provided [RCV000519686] Chr6:123269858 [GRCh38]
Chr6:123591003 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) single nucleotide variant Cardiovascular phenotype [RCV000244173]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487151]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518710]|not provided [RCV000440839] Chr6:123548478 [GRCh38]
Chr6:123869623 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.482A>G (p.Lys161Arg) single nucleotide variant Cardiovascular phenotype [RCV000254038] Chr6:123530508 [GRCh38]
Chr6:123851653 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly) single nucleotide variant Cardiovascular phenotype [RCV000252200]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487155] Chr6:123366174 [GRCh38]
Chr6:123687319 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1186+16C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518635]|not specified [RCV000252212] Chr6:123381354 [GRCh38]
Chr6:123702499 [GRCh37]
Chr6:6q22.31		 benign
NC_000006.12:g.123637274T>A single nucleotide variant not provided [RCV001571340] Chr6:123637274 [GRCh38]
Chr6:123958419 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu) single nucleotide variant Cardiovascular phenotype [RCV000245220]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518718] Chr6:123464926 [GRCh38]
Chr6:123786071 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.232+2T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526109] Chr6:123570921 [GRCh38]
Chr6:123892066 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.375C>T (p.Asp125=) single nucleotide variant Cardiovascular phenotype [RCV000250657]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518719]|not provided [RCV000828278]|not specified [RCV004767203] Chr6:123548470 [GRCh38]
Chr6:123869615 [GRCh37]
Chr6:6q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.1011G>A (p.Lys337=) single nucleotide variant Cardiovascular phenotype [RCV000250852]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518711] Chr6:123438103 [GRCh38]
Chr6:123759248 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2051-19G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518636]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001838582]|not specified [RCV000253279] Chr6:123218759 [GRCh38]
Chr6:123539904 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.*1903G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000299055] Chr6:123216698 [GRCh38]
Chr6:123537843 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1421-15G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993437] Chr6:123331944 [GRCh38]
Chr6:123653089 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.233-14_233-13del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002502374]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001838622]|Catecholaminergic polymorphic ventricular tachycardia [RCV000344525]|not provided [RCV001705520] Chr6:123548625..123548626 [GRCh38]
Chr6:123869770..123869771 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.510A>G (p.Gly170=) single nucleotide variant Cardiovascular phenotype [RCV002338947]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002520398]|not provided [RCV000842600]|not specified [RCV004701442] Chr6:123516181 [GRCh38]
Chr6:123837326 [GRCh37]
Chr6:6q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.*15C>T single nucleotide variant not provided [RCV001589548] Chr6:123218586 [GRCh38]
Chr6:123539731 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.*811G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000347100] Chr6:123217790 [GRCh38]
Chr6:123538935 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*61A>G single nucleotide variant not provided [RCV001671882] Chr6:123218540 [GRCh38]
Chr6:123539685 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.*62G>A single nucleotide variant not provided [RCV001719584] Chr6:123218539 [GRCh38]
Chr6:123539684 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.-26A>G single nucleotide variant TRDN-related disorder [RCV003950260]|not provided [RCV001707674] Chr6:123636801 [GRCh38]
Chr6:123957946 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.*1877_*1878del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV000356161] Chr6:123216723..123216724 [GRCh38]
Chr6:123537868..123537869 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) single nucleotide variant Cardiovascular phenotype [RCV002379245]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487556]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002524465]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV002467765]|not provided [RCV003105882] Chr6:123503785 [GRCh38]
Chr6:123824930 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002520399] Chr6:123571021 [GRCh38]
Chr6:123892166 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.233-13del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV000289587]|not provided [RCV001653703] Chr6:123548625 [GRCh38]
Chr6:123869770 [GRCh37]
Chr6:6q22.31		 benign|uncertain significance
NM_006073.4(TRDN):c.*1405T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000382090] Chr6:123217196 [GRCh38]
Chr6:123538341 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*1083T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000290045] Chr6:123217518 [GRCh38]
Chr6:123538663 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu) single nucleotide variant Cardiovascular phenotype [RCV002402073]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002520397]|TRDN-related disorder [RCV004755898]|not provided [RCV001565842] Chr6:123274662 [GRCh38]
Chr6:123595807 [GRCh37]
Chr6:6q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.*1775C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000330486] Chr6:123216826 [GRCh38]
Chr6:123537971 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.-135A>G single nucleotide variant not provided [RCV001617737] Chr6:123636910 [GRCh38]
Chr6:123958055 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.*2091A>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000402068] Chr6:123216510 [GRCh38]
Chr6:123537655 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*1711A>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000387342] Chr6:123216890 [GRCh38]
Chr6:123538035 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.*1482C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000277054] Chr6:123217119 [GRCh38]
Chr6:123538264 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.780G>A (p.Lys260=) single nucleotide variant Cardiovascular phenotype [RCV002409951]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103441] Chr6:123503732 [GRCh38]
Chr6:123824877 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.610+11A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000262645] Chr6:123512292 [GRCh38]
Chr6:123833437 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*416A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000393160] Chr6:123218185 [GRCh38]
Chr6:123539330 [GRCh37]
Chr6:6q22.31		 likely benign
NM_001256021.1(TRDN):c.-236T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000297052] Chr6:123637011 [GRCh38]
Chr6:123958156 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*137G>A single nucleotide variant not provided [RCV001613904] Chr6:123218464 [GRCh38]
Chr6:123539609 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr) single nucleotide variant Cardiovascular phenotype [RCV004022015]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002488789]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002520396] Chr6:123267725 [GRCh38]
Chr6:123588870 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) single nucleotide variant Cardiovascular phenotype [RCV002446608]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002504171]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002524466]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV002470847]|not provided [RCV001571495] Chr6:123571070 [GRCh38]
Chr6:123892215 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.233-15_233-13del deletion Cardiovascular phenotype [RCV004017595]|Catecholaminergic polymorphic ventricular tachycardia [RCV000395063]|not provided [RCV001538515] Chr6:123548625..123548627 [GRCh38]
Chr6:123869770..123869772 [GRCh37]
Chr6:6q22.31		 benign|likely benign|uncertain significance
NM_006073.4(TRDN):c.22+8T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525896] Chr6:123636746 [GRCh38]
Chr6:123957891 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1805-5dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638647]|Catecholaminergic polymorphic ventricular tachycardia [RCV000313783] Chr6:123260642..123260643 [GRCh38]
Chr6:123581787..123581788 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.*1456CA[3] microsatellite Catecholaminergic polymorphic ventricular tachycardia [RCV000325053] Chr6:123217141..123217142 [GRCh38]
Chr6:123538286..123538287 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu) single nucleotide variant Cardiovascular phenotype [RCV002418121]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518979]|not provided [RCV000388702] Chr6:123218656 [GRCh38]
Chr6:123539801 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*1866C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000263744] Chr6:123216735 [GRCh38]
Chr6:123537880 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526012]|not provided [RCV000489032] Chr6:123218669 [GRCh38]
Chr6:123539814 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1832-126A>C single nucleotide variant not provided [RCV001546649] Chr6:123259788 [GRCh38]
Chr6:123580933 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) single nucleotide variant Cardiovascular phenotype [RCV000620324]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526020]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001286021]|not provided [RCV000766609]|not specified [RCV000489524] Chr6:123255878 [GRCh38]
Chr6:123577023 [GRCh37]
Chr6:6q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001256021.2:c.438_442del deletion Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001580168] Chr6:6q22.31 pathogenic
NM_006073.4(TRDN):c.550+105del deletion not provided [RCV001547506] Chr6:123516036 [GRCh38]
Chr6:123837181 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-8T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554032] Chr6:123388559 [GRCh38]
Chr6:123709704 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.568dup (p.Ile190fs) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515600]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV000490366]|not provided [RCV000786234] Chr6:123512344..123512345 [GRCh38]
Chr6:123833489..123833490 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.*1946G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000361566] Chr6:123216655 [GRCh38]
Chr6:123537800 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1092A>C (p.Lys364Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000315340] Chr6:123393637 [GRCh38]
Chr6:123714782 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.932-6C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000400104] Chr6:123439009 [GRCh38]
Chr6:123760154 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*2003T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000304509] Chr6:123216598 [GRCh38]
Chr6:123537743 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*531T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000284107] Chr6:123218070 [GRCh38]
Chr6:123539215 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.232G>T (p.Ala78Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000294694] Chr6:123570923 [GRCh38]
Chr6:123892068 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1511G>A (p.Gly504Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000319480] Chr6:123279082 [GRCh38]
Chr6:123600227 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2078A>G (p.Tyr693Cys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000367218] Chr6:123218713 [GRCh38]
Chr6:123539858 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.485-13T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003845930] Chr6:123516219 [GRCh38]
Chr6:123837364 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.*2141T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000340067] Chr6:123216460 [GRCh38]
Chr6:123537605 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*496A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000341415] Chr6:123218105 [GRCh38]
Chr6:123539250 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.*634G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000376074] Chr6:123217967 [GRCh38]
Chr6:123539112 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1563G>A (p.Lys521=) single nucleotide variant Cardiovascular phenotype [RCV003159807]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526102] Chr6:123278322 [GRCh38]
Chr6:123599467 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp) single nucleotide variant Cardiovascular phenotype [RCV000622082]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528815]|not provided [RCV001575402] Chr6:123512322 [GRCh38]
Chr6:123833467 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu) single nucleotide variant Cardiovascular phenotype [RCV000617447]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531747] Chr6:123438986 [GRCh38]
Chr6:123760131 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg) single nucleotide variant Cardiovascular phenotype [RCV002448990]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529936] Chr6:123497195 [GRCh38]
Chr6:123818340 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1220-3C>T single nucleotide variant Cardiovascular phenotype [RCV002358694]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529592]|not specified [RCV000602762] Chr6:123377745 [GRCh38]
Chr6:123698890 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1471+5T>C single nucleotide variant Cardiovascular phenotype [RCV003372780]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492994]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529933] Chr6:123331874 [GRCh38]
Chr6:123653019 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.731del (p.Pro244fs) deletion Cardiovascular phenotype [RCV000621236] Chr6:123503781 [GRCh38]
Chr6:123824926 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) single nucleotide variant Cardiovascular phenotype [RCV002450957]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002481282]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002521431]|not specified [RCV000414327] Chr6:123382146 [GRCh38]
Chr6:123703291 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys) single nucleotide variant Cardiovascular phenotype [RCV004023919]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002506332]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003153703] Chr6:123438944 [GRCh38]
Chr6:123760089 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1369+9A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528386] Chr6:123352530 [GRCh38]
Chr6:123673675 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.176C>T (p.Thr59Met) single nucleotide variant Cardiovascular phenotype [RCV002413505]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526104]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV004546515] Chr6:123570979 [GRCh38]
Chr6:123892124 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr) single nucleotide variant Cardiovascular phenotype [RCV002395360]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528389] Chr6:123503758 [GRCh38]
Chr6:123824903 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly) single nucleotide variant Cardiovascular phenotype [RCV000620506]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002524654]|not specified [RCV000412817] Chr6:123274649 [GRCh38]
Chr6:123595794 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:123539531-124324489)x4 copy number gain See cases [RCV000446396] Chr6:123539531..124324489 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1035T>C (p.Ile345=) single nucleotide variant Cardiovascular phenotype [RCV002393057]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002522685]|not provided [RCV001696837] Chr6:123438079 [GRCh38]
Chr6:123759224 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1739-6C>T single nucleotide variant not specified [RCV000441464] Chr6:123267757 [GRCh38]
Chr6:123588902 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1537+17C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525461]|not specified [RCV000438854] Chr6:123279039 [GRCh38]
Chr6:123600184 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1951+16G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525452]|not specified [RCV000442865] Chr6:123255065 [GRCh38]
Chr6:123576210 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.129G>A (p.Thr43=) single nucleotide variant Cardiovascular phenotype [RCV002379381]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002522623]|not provided [RCV001696772]|not specified [RCV000419162] Chr6:123571026 [GRCh38]
Chr6:123892171 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1524G>A (p.Lys508=) single nucleotide variant not specified [RCV000442907] Chr6:123279069 [GRCh38]
Chr6:123600214 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1567+19T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525448]|not specified [RCV000440108] Chr6:123278299 [GRCh38]
Chr6:123599444 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.932-11G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002522570]|not specified [RCV000423158] Chr6:123439014 [GRCh38]
Chr6:123760159 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly) single nucleotide variant Cardiovascular phenotype [RCV002429506]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525570] Chr6:123218648 [GRCh38]
Chr6:123539793 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1051+1G>A single nucleotide variant Cardiovascular phenotype [RCV002402260]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526416]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003224804] Chr6:123438062 [GRCh38]
Chr6:123759207 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.553A>G (p.Thr185Ala) single nucleotide variant not provided [RCV000483297] Chr6:123512360 [GRCh38]
Chr6:123833505 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) single nucleotide variant Cardiovascular phenotype [RCV002418386]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002489049]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526418]|not provided [RCV000493942] Chr6:123218707 [GRCh38]
Chr6:123539852 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val) single nucleotide variant Cardiovascular phenotype [RCV002402261]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525568]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003741188]|not provided [RCV001770341] Chr6:123271151 [GRCh38]
Chr6:123592296 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.611-10C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001504936] Chr6:123503911 [GRCh38]
Chr6:123825056 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn) single nucleotide variant Cardiovascular phenotype [RCV004023216]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002489179]|not provided [RCV000479537] Chr6:123377879 [GRCh38]
Chr6:123699024 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1136-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001418795] Chr6:123382154 [GRCh38]
Chr6:123703299 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp) single nucleotide variant Cardiovascular phenotype [RCV000620981]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525666]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003225729]|not provided [RCV001508199] Chr6:123271146 [GRCh38]
Chr6:123592291 [GRCh37]
Chr6:6q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr) single nucleotide variant Cardiovascular phenotype [RCV002429505]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002523313]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001803767]|not provided [RCV004722780] Chr6:123393624 [GRCh38]
Chr6:123714769 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002489172]|not provided [RCV000481756] Chr6:123377727..123377728 [GRCh38]
Chr6:123698872..123698873 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103778]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001580171]|not provided [RCV000786235] Chr6:123570988 [GRCh38]
Chr6:123892133 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) single nucleotide variant Cardiovascular phenotype [RCV002379449]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002481432]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525569]|not provided [RCV004783787] Chr6:123352547 [GRCh38]
Chr6:123673692 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.307A>G (p.Ile103Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525566] Chr6:123548538 [GRCh38]
Chr6:123869683 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.480T>C (p.Thr160=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001447423] Chr6:123530510 [GRCh38]
Chr6:123851655 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.861C>T (p.Ser287=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001410332]|not provided [RCV000839234] Chr6:123464976 [GRCh38]
Chr6:123786121 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.540T>C (p.Pro180=) single nucleotide variant Cardiovascular phenotype [RCV002350023]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525664] Chr6:123516151 [GRCh38]
Chr6:123837296 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr) single nucleotide variant Cardiovascular phenotype [RCV000619012]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525661]|not provided [RCV001721523]|not specified [RCV000607213] Chr6:123279062 [GRCh38]
Chr6:123600207 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638668] Chr6:123218699 [GRCh38]
Chr6:123539844 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) single nucleotide variant Cardiovascular phenotype [RCV000620120]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002480402]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525571]|not provided [RCV001712418] Chr6:123571084 [GRCh38]
Chr6:123892229 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys) single nucleotide variant Cardiovascular phenotype [RCV000619360]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526482]|not provided [RCV002473022] Chr6:123548568 [GRCh38]
Chr6:123869713 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) single nucleotide variant Cardiovascular phenotype [RCV002329046]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002506124]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526415] Chr6:123547345 [GRCh38]
Chr6:123868490 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.546G>A (p.Lys182=) single nucleotide variant Cardiovascular phenotype [RCV002350024]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525668]|not provided [RCV001696809]|not specified [RCV000600768] Chr6:123516145 [GRCh38]
Chr6:123837290 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525572] Chr6:123279067 [GRCh38]
Chr6:123600212 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu) single nucleotide variant Cardiovascular phenotype [RCV000619195]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526669]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003224297]|not provided [RCV000486067]|not specified [RCV004800423] Chr6:123464953 [GRCh38]
Chr6:123786098 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.618del (p.Ala208fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526417] Chr6:123503894 [GRCh38]
Chr6:123825039 [GRCh37]
Chr6:6q22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser) single nucleotide variant Cardiovascular phenotype [RCV000620249]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525663]|TRDN-related disorder [RCV003932747]|not provided [RCV001707701]|not specified [RCV002298609] Chr6:123316457 [GRCh38]
Chr6:123637602 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.948G>A (p.Lys316=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638670] Chr6:123438987 [GRCh38]
Chr6:123760132 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002523315] Chr6:123516141 [GRCh38]
Chr6:123837286 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1537+1G>A single nucleotide variant Cardiovascular phenotype [RCV000618646]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002506123]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002523314]|not provided [RCV000497346]|not specified [RCV003993969] Chr6:123279055 [GRCh38]
Chr6:123600200 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NC_000006.12:g.(?_123260612)_(123260638_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV000458730] Chr6:123260612..123260638 [GRCh38]
Chr6:123581757..123581783 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1370-11_1370-10delinsAC indel Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525567] Chr6:123337679..123337680 [GRCh38]
Chr6:123658824..123658825 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) deletion Cardiovascular phenotype [RCV002413341]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526966]|not provided [RCV000480292] Chr6:123255870..123255873 [GRCh38]
Chr6:123577015..123577018 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1 copy number loss See cases [RCV000511386] Chr6:122612641..131564463 [GRCh37]
Chr6:6q22.31-23.2		 pathogenic
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln) single nucleotide variant Cardiovascular phenotype [RCV002404295]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002524056]|not provided [RCV000493060] Chr6:123393674 [GRCh38]
Chr6:123714819 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2050+2T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526108] Chr6:123221485 [GRCh38]
Chr6:123542630 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1135+10A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002532806]|not specified [RCV000601497] Chr6:123388512 [GRCh38]
Chr6:123709657 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.126G>A (p.Thr42=) single nucleotide variant Cardiovascular phenotype [RCV000617734]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531739]|not provided [RCV001566827] Chr6:123571029 [GRCh38]
Chr6:123892174 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2073T>C (p.Cys691=) single nucleotide variant Cardiovascular phenotype [RCV000620081]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528633]|not specified [RCV000606773] Chr6:123218718 [GRCh38]
Chr6:123539863 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.854G>A (p.Gly285Glu) single nucleotide variant Cardiovascular phenotype [RCV003296970] Chr6:123464983 [GRCh38]
Chr6:123786128 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1538-19T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529765]|not specified [RCV000605816] Chr6:123278366 [GRCh38]
Chr6:123599511 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1975+9G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528388]|TRDN-related disorder [RCV003960304]|not specified [RCV000616711] Chr6:123252403 [GRCh38]
Chr6:123573548 [GRCh37]
Chr6:6q22.31		 benign|likely benign
GRCh37/hg19 6q22.31(chr6:123477056-124324549)x3 copy number gain See cases [RCV000515555] Chr6:123477056..124324549 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526101]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003139763] Chr6:123381381 [GRCh38]
Chr6:123702526 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln) single nucleotide variant Cardiovascular phenotype [RCV002404788]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529905] Chr6:123269854 [GRCh38]
Chr6:123590999 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1806del (p.Gly603fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529891]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003488750] Chr6:123265318 [GRCh38]
Chr6:123586463 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) single nucleotide variant Cardiovascular phenotype [RCV002404789]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002483825]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533231] Chr6:123267707 [GRCh38]
Chr6:123588852 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123586443)_(123588916_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV000639197] Chr6:123265298..123267771 [GRCh38]
Chr6:123586443..123588916 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly) single nucleotide variant Cardiovascular phenotype [RCV000618950]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531780]|not provided [RCV004808534] Chr6:123438095 [GRCh38]
Chr6:123759240 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1932A>G (p.Gln644=) single nucleotide variant Cardiovascular phenotype [RCV002413507]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528387] Chr6:123255100 [GRCh38]
Chr6:123576245 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2		 drug response
NM_006073.4(TRDN):c.1980T>C (p.Asp660=) single nucleotide variant Cardiovascular phenotype [RCV000620586] Chr6:123224127 [GRCh38]
Chr6:123545272 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.424+13_424+14delinsTC indel not specified [RCV000609649] Chr6:123547326..123547327 [GRCh38]
Chr6:123868471..123868472 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1472-13C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002498887]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529296]|not provided [RCV001535405]|not specified [RCV000606839] Chr6:123316508 [GRCh38]
Chr6:123637653 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.611-19A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002498899]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531156]|not specified [RCV000615338] Chr6:123503920 [GRCh38]
Chr6:123825065 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.484+7del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531572]|not specified [RCV000615819] Chr6:123530499 [GRCh38]
Chr6:123851644 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1871-6A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526105] Chr6:123255908 [GRCh38]
Chr6:123577053 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln) single nucleotide variant Cardiovascular phenotype [RCV000617589]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531801] Chr6:123497234 [GRCh38]
Chr6:123818379 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.793G>T (p.Asp265Tyr) single nucleotide variant Cardiovascular phenotype [RCV000621979] Chr6:123503719 [GRCh38]
Chr6:123824864 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) single nucleotide variant Cardiovascular phenotype [RCV000617318]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002483713]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531768] Chr6:123570959 [GRCh38]
Chr6:123892104 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1186+13A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529707]|not specified [RCV000612765] Chr6:123381357 [GRCh38]
Chr6:123702502 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1299T>C (p.Ile433=) single nucleotide variant Cardiovascular phenotype [RCV000618439] Chr6:123366157 [GRCh38]
Chr6:123687302 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529886] Chr6:123255098 [GRCh38]
Chr6:123576243 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs) deletion Cardiovascular phenotype [RCV002406375]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529921] Chr6:123255108..123255109 [GRCh38]
Chr6:123576253..123576254 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529926] Chr6:123272969 [GRCh38]
Chr6:123594114 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.991+11T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638697]|not specified [RCV000610299] Chr6:123438933 [GRCh38]
Chr6:123760078 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) single nucleotide variant Cardiovascular phenotype [RCV002350257]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002483410]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526110]|not provided [RCV001555515] Chr6:123516141 [GRCh38]
Chr6:123837286 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1322-10T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103804] Chr6:123352596 [GRCh38]
Chr6:123673741 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.65G>T (p.Gly22Val) single nucleotide variant Cardiovascular phenotype [RCV003296005]|not provided [RCV004790527] Chr6:123571090 [GRCh38]
Chr6:123892235 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1831+12C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529370]|not specified [RCV000610423] Chr6:123260600 [GRCh38]
Chr6:123581745 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.551-20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638687]|not specified [RCV000610496] Chr6:123512382 [GRCh38]
Chr6:123833527 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-19G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104001]|not specified [RCV000613335] Chr6:123388570 [GRCh38]
Chr6:123709715 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.155T>A (p.Leu52Gln) single nucleotide variant not specified [RCV000616410] Chr6:123571000 [GRCh38]
Chr6:123892145 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala) single nucleotide variant Cardiovascular phenotype [RCV004024893]|not provided [RCV001764722]|not specified [RCV000608412] Chr6:123512321 [GRCh38]
Chr6:123833466 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.793+61T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001002182]|not provided [RCV004705679]|not specified [RCV000614043] Chr6:123503658 [GRCh38]
Chr6:123824803 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.147C>A (p.Ala49=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531712]|not specified [RCV000601143] Chr6:123571008 [GRCh38]
Chr6:123892153 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.551-4T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529700]|not specified [RCV000609002] Chr6:123512366 [GRCh38]
Chr6:123833511 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1135+1G>A single nucleotide variant Cardiovascular phenotype [RCV003296963] Chr6:123388521 [GRCh38]
Chr6:123709666 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.232+15A>T single nucleotide variant not specified [RCV000609080] Chr6:123570908 [GRCh38]
Chr6:123892053 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.46G>C (p.Val16Leu) single nucleotide variant Cardiovascular phenotype [RCV002334018]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528763]|not specified [RCV000609364] Chr6:123571109 [GRCh38]
Chr6:123892254 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys) single nucleotide variant Cardiovascular phenotype [RCV000617976]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531783] Chr6:123464935 [GRCh38]
Chr6:123786080 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.94C>T (p.Leu32=) single nucleotide variant Cardiovascular phenotype [RCV000618606]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531797] Chr6:123571061 [GRCh38]
Chr6:123892206 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg) single nucleotide variant Cardiovascular phenotype [RCV000618878]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531802]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003139946] Chr6:123388527 [GRCh38]
Chr6:123709672 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1951+6C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529416]|not provided [RCV001722587] Chr6:123255075 [GRCh38]
Chr6:123576220 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro) single nucleotide variant Cardiovascular phenotype [RCV002377394]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533217]|not provided [RCV002293467] Chr6:123366180 [GRCh38]
Chr6:123687325 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp) single nucleotide variant Cardiovascular phenotype [RCV004025538]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002507086]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529901] Chr6:123571130 [GRCh38]
Chr6:123892275 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.750G>T (p.Lys250Asn) single nucleotide variant Cardiovascular phenotype [RCV004686596]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529889] Chr6:123503762 [GRCh38]
Chr6:123824907 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala) single nucleotide variant Cardiovascular phenotype [RCV002406374]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529917]|not provided [RCV001571719] Chr6:123260635 [GRCh38]
Chr6:123581780 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529918] Chr6:123224111 [GRCh38]
Chr6:123545256 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) single nucleotide variant Cardiovascular phenotype [RCV002386040]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492992]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529919] Chr6:123366152 [GRCh38]
Chr6:123687297 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2007A>G (p.Lys669=) single nucleotide variant Cardiovascular phenotype [RCV003162864]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529969] Chr6:123224100 [GRCh38]
Chr6:123545245 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.11:g.(?_123539726)_(123825066_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103821] Chr6:123218581..123503921 [GRCh38]
Chr6:123539726..123825066 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1568-4T>A single nucleotide variant Cardiovascular phenotype [RCV000619973]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531535]|not provided [RCV001707778] Chr6:123274674 [GRCh38]
Chr6:123595819 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1922A>G (p.Glu641Gly) single nucleotide variant not provided [RCV000658298] Chr6:123255110 [GRCh38]
Chr6:123576255 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1321+1del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563758] Chr6:123366134 [GRCh38]
Chr6:123687279 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1187-2A>G single nucleotide variant Cardiovascular phenotype [RCV002334239]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531412]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV000680131]|TRDN-related disorder [RCV003411589]|not provided [RCV004588103] Chr6:123377900 [GRCh38]
Chr6:123699045 [GRCh37]
Chr6:6q22.31		 pathogenic|benign|uncertain significance
GRCh37/hg19 6q22.31(chr6:123509362-124332260)x3 copy number gain not provided [RCV000682718] Chr6:123509362..124332260 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
GRCh37/hg19 6q22.31(chr6:123786927-124034213)x1 copy number loss not provided [RCV000682719] Chr6:123786927..124034213 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala) single nucleotide variant Cardiovascular phenotype [RCV002397364]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544730] Chr6:123272985 [GRCh38]
Chr6:123594130 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) single nucleotide variant Cardiovascular phenotype [RCV002424589]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002507189]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547104]|not provided [RCV003480765] Chr6:123218612 [GRCh38]
Chr6:123539757 [GRCh37]
Chr6:6q22.31		 uncertain significance
Single allele duplication not provided [RCV000677970] Chr6:123539531..124463373 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln) single nucleotide variant Cardiovascular phenotype [RCV002397454]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533632]|not provided [RCV003148835] Chr6:123267736 [GRCh38]
Chr6:123588881 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002534403] Chr6:123547348 [GRCh38]
Chr6:123868493 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.161T>C (p.Ile54Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544748] Chr6:123570994 [GRCh38]
Chr6:123892139 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.798G>C (p.Gln266His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536380] Chr6:123497248 [GRCh38]
Chr6:123818393 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile) single nucleotide variant Cardiovascular phenotype [RCV002458240]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531469] Chr6:123571045 [GRCh38]
Chr6:123892190 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1906+6T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544791] Chr6:123255861 [GRCh38]
Chr6:123577006 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1975+4del deletion Cardiovascular phenotype [RCV002422579]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533657] Chr6:123252408 [GRCh38]
Chr6:123573553 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly) single nucleotide variant Cardiovascular phenotype [RCV002386196]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544912] Chr6:123337669 [GRCh38]
Chr6:123658814 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala) single nucleotide variant Cardiovascular phenotype [RCV004025052]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002507199]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544876] Chr6:123571028 [GRCh38]
Chr6:123892173 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002532295] Chr6:123337664 [GRCh38]
Chr6:123658809 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002532870] Chr6:123516162 [GRCh38]
Chr6:123837307 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser) indel Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525946] Chr6:123366142..123366143 [GRCh38]
Chr6:123687287..123687288 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1871-9T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544891] Chr6:123255911 [GRCh38]
Chr6:123577056 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.520_550+494del deletion Cardiovascular phenotype [RCV002334384]|Catecholaminergic polymorphic ventricular tachycardia [RCV000705506] Chr6:123515647..123516171 [GRCh38]
Chr6:123836792..123837316 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.826A>G (p.Ile276Val) single nucleotide variant Cardiovascular phenotype [RCV002424645]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531486]|not provided [RCV004817934] Chr6:123497220 [GRCh38]
Chr6:123818365 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) single nucleotide variant Cardiovascular phenotype [RCV004025206]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485678]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103828]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003224379]|not provided [RCV004588124] Chr6:123512338 [GRCh38]
Chr6:123833483 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp) single nucleotide variant Cardiovascular phenotype [RCV002397398]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531442] Chr6:123274669 [GRCh38]
Chr6:123595814 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.424+42T>G single nucleotide variant not provided [RCV001567794] Chr6:123547298 [GRCh38]
Chr6:123868443 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q22.31(chr6:123556891-123753606)x3 copy number gain not provided [RCV000746013] Chr6:123556891..123753606 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6q22.31(chr6:123560579-123592852)x3 copy number gain not provided [RCV000746014] Chr6:123560579..123592852 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6q22.31(chr6:123560579-123669127)x3 copy number gain not provided [RCV000746015] Chr6:123560579..123669127 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6q22.31(chr6:123592333-123593044)x3 copy number gain not provided [RCV000746016] Chr6:123592333..123593044 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6q22.31(chr6:123592333-123593097)x3 copy number gain not provided [RCV000746017] Chr6:123592333..123593097 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6q22.31(chr6:123668347-123897071)x3 copy number gain not provided [RCV000746018] Chr6:123668347..123897071 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.854-188T>C single nucleotide variant not provided [RCV001540807] Chr6:123465171 [GRCh38]
Chr6:123786316 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1739-45_1739-42dup duplication not provided [RCV001645718] Chr6:123267792..123267793 [GRCh38]
Chr6:123588937..123588938 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1625-61C>T single nucleotide variant not provided [RCV001586646] Chr6:123273072 [GRCh38]
Chr6:123594217 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.*220C>T single nucleotide variant not provided [RCV001689442] Chr6:123218381 [GRCh38]
Chr6:123539526 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.485-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536228] Chr6:123516213 [GRCh38]
Chr6:123837358 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1420+196T>C single nucleotide variant not provided [RCV001571092] Chr6:123337423 [GRCh38]
Chr6:123658568 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-266G>A single nucleotide variant not provided [RCV001544837] Chr6:123273629 [GRCh38]
Chr6:123594774 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.232+24T>C single nucleotide variant not provided [RCV001725053] Chr6:123570899 [GRCh38]
Chr6:123892044 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1370-44C>T single nucleotide variant not provided [RCV001647748] Chr6:123337713 [GRCh38]
Chr6:123658858 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1805-134T>C single nucleotide variant not provided [RCV001547051] Chr6:123260772 [GRCh38]
Chr6:123581917 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1805-21dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002539570]|not provided [RCV001619571]|not specified [RCV001703138] Chr6:123260644..123260645 [GRCh38]
Chr6:123581789..123581790 [GRCh37]
Chr6:6q22.31		 benign
NC_000006.12:g.(?_123218591)_(123224141_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103889] Chr6:123539736..123545286 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.992-272A>G single nucleotide variant not provided [RCV001570422] Chr6:123438394 [GRCh38]
Chr6:123759539 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly) single nucleotide variant Cardiovascular phenotype [RCV004031416]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552590] Chr6:123252421 [GRCh38]
Chr6:123573566 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1567+123dup duplication not provided [RCV001725065] Chr6:123278186..123278187 [GRCh38]
Chr6:123599331..123599332 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1421-147_1421-145dup duplication not provided [RCV001568504] Chr6:123332073..123332074 [GRCh38]
Chr6:123653218..123653219 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.348T>C (p.Ser116=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544414] Chr6:123548497 [GRCh38]
Chr6:123869642 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.126G>T (p.Thr42=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002542166] Chr6:123571029 [GRCh38]
Chr6:123892174 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1962T>G (p.Pro654=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525995] Chr6:123252425 [GRCh38]
Chr6:123573570 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1832-4C>A single nucleotide variant Cardiovascular phenotype [RCV002409048]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536753]|TRDN-related disorder [RCV003948126]|not provided [RCV003992411] Chr6:123259666 [GRCh38]
Chr6:123580811 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.2051-6C>T single nucleotide variant not provided [RCV000867945] Chr6:123218746 [GRCh38]
Chr6:123539891 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1383A>G (p.Glu461=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550576] Chr6:123337656 [GRCh38]
Chr6:123658801 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.402T>C (p.Asp134=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526018] Chr6:123547362 [GRCh38]
Chr6:123868507 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr) single nucleotide variant Cardiovascular phenotype [RCV002393304]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553919] Chr6:123438080 [GRCh38]
Chr6:123759225 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn) single nucleotide variant Cardiovascular phenotype [RCV002427479]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552081] Chr6:123570941 [GRCh38]
Chr6:123892086 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile) single nucleotide variant Cardiovascular phenotype [RCV002416411]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553360] Chr6:123218717 [GRCh38]
Chr6:123539862 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) single nucleotide variant Cardiovascular phenotype [RCV004031109]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551449]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001580170] Chr6:123516189 [GRCh38]
Chr6:123837334 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.872C>T (p.Pro291Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553089] Chr6:123464965 [GRCh38]
Chr6:123786110 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.12:g.(?_123497183)_(123512372_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103897] Chr6:123818328..123833517 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu) single nucleotide variant Cardiovascular phenotype [RCV002402468]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554556] Chr6:123274659 [GRCh38]
Chr6:123595804 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1976-3T>C single nucleotide variant Cardiovascular phenotype [RCV002416354]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551525] Chr6:123224134 [GRCh38]
Chr6:123545279 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.425-4_425-3insLINE1 insertion Catecholaminergic polymorphic ventricular tachycardia [RCV001089826]   uncertain significance
NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553062] Chr6:123255899 [GRCh38]
Chr6:123577044 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001054570] Chr6:123259630 [GRCh38]
Chr6:123580775 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg) single nucleotide variant Cardiovascular phenotype [RCV002406801]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537245]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003224476] Chr6:123497249 [GRCh38]
Chr6:123818394 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1537+100del deletion not provided [RCV000834148] Chr6:123278956 [GRCh38]
Chr6:123600101 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.2096del (p.Gly699fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002534867] Chr6:123218695 [GRCh38]
Chr6:123539840 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.485-8C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550577] Chr6:123516214 [GRCh38]
Chr6:123837359 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.991+10T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002540955] Chr6:123438934 [GRCh38]
Chr6:123760079 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1625-8A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638727] Chr6:123273019 [GRCh38]
Chr6:123594164 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2050+9A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538969] Chr6:123221478 [GRCh38]
Chr6:123542623 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2015-5A>T single nucleotide variant not provided [RCV000918592] Chr6:123221527 [GRCh38]
Chr6:123542672 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.23-19T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487876]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538309]|not provided [RCV000841402] Chr6:123571151 [GRCh38]
Chr6:123892296 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.484+1457C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538280]|not provided [RCV000834149] Chr6:123529049 [GRCh38]
Chr6:123850194 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1870+109G>A single nucleotide variant not provided [RCV000834152] Chr6:123259515 [GRCh38]
Chr6:123580660 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.854-84A>G single nucleotide variant not provided [RCV000835796] Chr6:123465067 [GRCh38]
Chr6:123786212 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.233-215C>A single nucleotide variant not provided [RCV000835816] Chr6:123548827 [GRCh38]
Chr6:123869972 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.550+98A>C single nucleotide variant not provided [RCV000835817] Chr6:123516043 [GRCh38]
Chr6:123837188 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1537+30C>T single nucleotide variant not provided [RCV000835819] Chr6:123279026 [GRCh38]
Chr6:123600171 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.853+243C>T single nucleotide variant not provided [RCV000837612] Chr6:123496950 [GRCh38]
Chr6:123818095 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+39T>C single nucleotide variant not provided [RCV000839527] Chr6:123530467 [GRCh38]
Chr6:123851612 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.94C>A (p.Leu32Met) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537330] Chr6:123571061 [GRCh38]
Chr6:123892206 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.23-60C>T single nucleotide variant not provided [RCV000834171] Chr6:123571192 [GRCh38]
Chr6:123892337 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.391+140T>C single nucleotide variant not provided [RCV000834194] Chr6:123548314 [GRCh38]
Chr6:123869459 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.991+122G>A single nucleotide variant not provided [RCV000834197] Chr6:123438822 [GRCh38]
Chr6:123759967 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1805-156C>T single nucleotide variant not provided [RCV000834214] Chr6:123260794 [GRCh38]
Chr6:123581939 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.794-231C>G single nucleotide variant not provided [RCV000837735] Chr6:123497483 [GRCh38]
Chr6:123818628 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1952-10C>A single nucleotide variant not provided [RCV000842183] Chr6:123252445 [GRCh38]
Chr6:123573590 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1511-14T>C single nucleotide variant not specified [RCV000825251] Chr6:123279096 [GRCh38]
Chr6:123600241 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.854-237A>G single nucleotide variant not provided [RCV000838226] Chr6:123465220 [GRCh38]
Chr6:123786365 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.23-228A>C single nucleotide variant not provided [RCV000838255] Chr6:123571360 [GRCh38]
Chr6:123892505 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.23-227G>T single nucleotide variant not provided [RCV000838256] Chr6:123571359 [GRCh38]
Chr6:123892504 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1051+232A>C single nucleotide variant not provided [RCV000838260] Chr6:123437831 [GRCh38]
Chr6:123758976 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser) single nucleotide variant Cardiovascular phenotype [RCV002406872]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537433] Chr6:123393666 [GRCh38]
Chr6:123714811 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.22+4T>C single nucleotide variant Cardiovascular phenotype [RCV002424856]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537145] Chr6:123636750 [GRCh38]
Chr6:123957895 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002535476] Chr6:123548454 [GRCh38]
Chr6:123869599 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1247-201C>A single nucleotide variant not provided [RCV000838761] Chr6:123375832 [GRCh38]
Chr6:123696977 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.485-266T>C single nucleotide variant not provided [RCV000840613] Chr6:123516472 [GRCh38]
Chr6:123837617 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+921T>C single nucleotide variant not provided [RCV000840614] Chr6:123529585 [GRCh38]
Chr6:123850730 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.611-321A>G single nucleotide variant not provided [RCV000840615] Chr6:123504222 [GRCh38]
Chr6:123825367 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.854-325C>T single nucleotide variant not provided [RCV000840616] Chr6:123465308 [GRCh38]
Chr6:123786453 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1472-269G>A single nucleotide variant not provided [RCV000840617] Chr6:123316764 [GRCh38]
Chr6:123637909 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1166-1G>A single nucleotide variant Cardiovascular phenotype [RCV002332631]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002534684]|not provided [RCV002223945] Chr6:123381391 [GRCh38]
Chr6:123702536 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser) inversion Cardiovascular phenotype [RCV002453861]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537412] Chr6:123393630..123393631 [GRCh38]
Chr6:123714775..123714776 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.854-134del deletion not provided [RCV000834120] Chr6:123465117 [GRCh38]
Chr6:123786262 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.3(TRDN):c.-459C>G single nucleotide variant not provided [RCV000840799] Chr6:123637234 [GRCh38]
Chr6:123958379 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.22+276T>G single nucleotide variant not provided [RCV000840800] Chr6:123636478 [GRCh38]
Chr6:123957623 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1274-290A>C single nucleotide variant not provided [RCV000840801] Chr6:123366472 [GRCh38]
Chr6:123687617 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.3(TRDN):c.-573A>C single nucleotide variant not provided [RCV000840835] Chr6:123637348 [GRCh38]
Chr6:123958493 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.424+244C>G single nucleotide variant not provided [RCV000839117] Chr6:123547096 [GRCh38]
Chr6:123868241 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.23-155C>T single nucleotide variant not provided [RCV000834115] Chr6:123571287 [GRCh38]
Chr6:123892432 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.232+186C>T single nucleotide variant not provided [RCV000834116] Chr6:123570737 [GRCh38]
Chr6:123891882 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.233-149C>A single nucleotide variant not provided [RCV000834117] Chr6:123548761 [GRCh38]
Chr6:123869906 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.392-148C>T single nucleotide variant not provided [RCV000834118] Chr6:123547520 [GRCh38]
Chr6:123868665 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.794-183T>C single nucleotide variant not provided [RCV000834119] Chr6:123497435 [GRCh38]
Chr6:123818580 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.232+67C>T single nucleotide variant not provided [RCV000834121] Chr6:123570856 [GRCh38]
Chr6:123892001 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.425-155T>A single nucleotide variant not provided [RCV000834122] Chr6:123530720 [GRCh38]
Chr6:123851865 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1420+93A>G single nucleotide variant not provided [RCV000834145] Chr6:123337526 [GRCh38]
Chr6:123658671 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+153_484+179del microsatellite not provided [RCV000834146] Chr6:123530327..123530353 [GRCh38]
Chr6:123851472..123851498 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+204A>T single nucleotide variant not provided [RCV000834147] Chr6:123530302 [GRCh38]
Chr6:123851447 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1738+216C>T single nucleotide variant not provided [RCV000834150] Chr6:123269633 [GRCh38]
Chr6:123590778 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.424+197T>C single nucleotide variant not provided [RCV000834196] Chr6:123547143 [GRCh38]
Chr6:123868288 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs) microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003117675]|Catecholaminergic polymorphic ventricular tachycardia [RCV004017772]|not provided [RCV000998677] Chr6:123366163..123366164 [GRCh38]
Chr6:123687308..123687309 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del) microsatellite Cardiovascular phenotype [RCV004678848]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002535958] Chr6:123548475..123548477 [GRCh38]
Chr6:123869620..123869622 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1672+221C>A single nucleotide variant not provided [RCV000838691] Chr6:123272743 [GRCh38]
Chr6:123593888 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+1458G>A single nucleotide variant not provided [RCV000838748] Chr6:123529048 [GRCh38]
Chr6:123850193 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1370-83A>C single nucleotide variant not provided [RCV000835818] Chr6:123337752 [GRCh38]
Chr6:123658897 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1721-92A>C single nucleotide variant not provided [RCV000839091] Chr6:123269958 [GRCh38]
Chr6:123591103 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537424] Chr6:123259641 [GRCh38]
Chr6:123580786 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537084] Chr6:123547366 [GRCh38]
Chr6:123868511 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1938C>A (p.His646Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538203] Chr6:123255094 [GRCh38]
Chr6:123576239 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.145G>C (p.Ala49Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002535877] Chr6:123571010 [GRCh38]
Chr6:123892155 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.392-153dup duplication not provided [RCV000834195] Chr6:123547520..123547521 [GRCh38]
Chr6:123868665..123868666 [GRCh37]
Chr6:6q22.31		 benign
NC_000006.12:g.(?_123547330)_(123548622_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV004562696] Chr6:123547330..123548622 [GRCh38]
Chr6:123868475..123869767 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.12:g.(?_123438043)_(123465003_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103844] Chr6:123438043..123465003 [GRCh38]
Chr6:123759188..123786148 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.12:g.(?_123337609)_(123439013_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV001032311] Chr6:123658754..123760158 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys) single nucleotide variant Cardiovascular phenotype [RCV002325529]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537100] Chr6:123548534 [GRCh38]
Chr6:123869679 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.932-271A>G single nucleotide variant not provided [RCV000840634] Chr6:123439274 [GRCh38]
Chr6:123760419 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1246+317C>T single nucleotide variant not provided [RCV000840635] Chr6:123377399 [GRCh38]
Chr6:123698544 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+41C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001838646]|not provided [RCV000834139]|not specified [RCV004586953] Chr6:123530465 [GRCh38]
Chr6:123851610 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1274-105A>G single nucleotide variant not provided [RCV000834140] Chr6:123366287 [GRCh38]
Chr6:123687432 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+61C>T single nucleotide variant not provided [RCV000834141] Chr6:123530445 [GRCh38]
Chr6:123851590 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1369+229C>A single nucleotide variant not provided [RCV000834142] Chr6:123352310 [GRCh38]
Chr6:123673455 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.484+113C>G single nucleotide variant not provided [RCV000834143] Chr6:123530393 [GRCh38]
Chr6:123851538 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1420+84T>C single nucleotide variant not provided [RCV000834144] Chr6:123337535 [GRCh38]
Chr6:123658680 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1739-210G>A single nucleotide variant not provided [RCV000834151] Chr6:123267961 [GRCh38]
Chr6:123589106 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.728C>T (p.Thr243Ile) single nucleotide variant Cardiovascular phenotype [RCV002381898]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536135]|not provided [RCV000841431] Chr6:123503784 [GRCh38]
Chr6:123824929 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1871-137C>T single nucleotide variant not provided [RCV000838237] Chr6:123256039 [GRCh38]
Chr6:123577184 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002535919] Chr6:123331923 [GRCh38]
Chr6:123653068 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538175] Chr6:123571105 [GRCh38]
Chr6:123892250 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala) single nucleotide variant Cardiovascular phenotype [RCV002427021]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002534910]|not provided [RCV001759590]|not specified [RCV004586944] Chr6:123218627 [GRCh38]
Chr6:123539772 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1721-203C>T single nucleotide variant not provided [RCV000839090] Chr6:123270069 [GRCh38]
Chr6:123591214 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536005] Chr6:123464974 [GRCh38]
Chr6:123786119 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:123424461-123826573)x3 copy number gain not provided [RCV000848999] Chr6:123424461..123826573 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:123551934-123597121)x1 copy number loss not provided [RCV000846526] Chr6:123551934..123597121 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr) single nucleotide variant Cardiovascular phenotype [RCV002393225]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552583] Chr6:123316466 [GRCh38]
Chr6:123637611 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563197] Chr6:123530554 [GRCh38]
Chr6:123851699 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1870+1G>A single nucleotide variant not provided [RCV000998675] Chr6:123259623 [GRCh38]
Chr6:123580768 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.1805-6_1805-4delinsT indel Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526062] Chr6:123260642..123260644 [GRCh38]
Chr6:123581787..123581789 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1321+2T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563901] Chr6:123366133 [GRCh38]
Chr6:123687278 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563816] Chr6:123255876 [GRCh38]
Chr6:123577021 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2132G>A (p.Arg711His) single nucleotide variant Cardiovascular phenotype [RCV002418760]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103933] Chr6:123218659 [GRCh38]
Chr6:123539804 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563016] Chr6:123438988 [GRCh38]
Chr6:123760133 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs) indel Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564005] Chr6:123273359..123273361 [GRCh38]
Chr6:123594504..123594506 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys) single nucleotide variant Cardiovascular phenotype [RCV002356932]|Catecholaminergic polymorphic ventricular tachycardia [RCV001218462] Chr6:123438096 [GRCh38]
Chr6:123759241 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly) single nucleotide variant Cardiovascular phenotype [RCV003163597]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561733] Chr6:123438071 [GRCh38]
Chr6:123759216 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.484+6C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002570357] Chr6:123530500 [GRCh38]
Chr6:123851645 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:123815422-123951153)x1 copy number loss not provided [RCV000845771] Chr6:123815422..123951153 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1298T>C (p.Ile433Thr) single nucleotide variant Cardiovascular phenotype [RCV004285823] Chr6:123366158 [GRCh38]
Chr6:123687303 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.931+6T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562383] Chr6:123464900 [GRCh38]
Chr6:123786045 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104519] Chr6:123375619 [GRCh38]
Chr6:123696764 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.694C>A (p.Gln232Lys) single nucleotide variant not provided [RCV004776813] Chr6:123503818 [GRCh38]
Chr6:123824963 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1537+280A>T single nucleotide variant not provided [RCV001576103] Chr6:123278776 [GRCh38]
Chr6:123599921 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1566A>G (p.Pro522=) single nucleotide variant not provided [RCV001570828] Chr6:123278319 [GRCh38]
Chr6:123599464 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1166-52C>T single nucleotide variant not provided [RCV001575321] Chr6:123381442 [GRCh38]
Chr6:123702587 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1624+40C>A single nucleotide variant not provided [RCV001547941] Chr6:123273297 [GRCh38]
Chr6:123594442 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1624+30G>A single nucleotide variant not provided [RCV001560064] Chr6:123273307 [GRCh38]
Chr6:123594452 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1673-141A>G single nucleotide variant not provided [RCV001588615] Chr6:123271327 [GRCh38]
Chr6:123592472 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-137A>G single nucleotide variant not provided [RCV001638619] Chr6:123388688 [GRCh38]
Chr6:123709833 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1471+193T>C single nucleotide variant not provided [RCV001575934] Chr6:123331686 [GRCh38]
Chr6:123652831 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1952-58del deletion not provided [RCV001659364] Chr6:123252493 [GRCh38]
Chr6:123573638 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.992-215dup duplication not provided [RCV001713265] Chr6:123438325..123438326 [GRCh38]
Chr6:123759470..123759471 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.992-28G>T single nucleotide variant not provided [RCV001549936] Chr6:123438150 [GRCh38]
Chr6:123759295 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1721-202G>T single nucleotide variant not provided [RCV001555469] Chr6:123270068 [GRCh38]
Chr6:123591213 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1871-323C>T single nucleotide variant not provided [RCV001534152] Chr6:123256225 [GRCh38]
Chr6:123577370 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.*122T>A single nucleotide variant not provided [RCV001550334] Chr6:123218479 [GRCh38]
Chr6:123539624 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1720+76CA[15] microsatellite not provided [RCV001608629] Chr6:123271039..123271040 [GRCh38]
Chr6:123592184..123592185 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.*19T>G single nucleotide variant not provided [RCV001556886] Chr6:123218582 [GRCh38]
Chr6:123539727 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.392-312T>C single nucleotide variant not provided [RCV001594036] Chr6:123547684 [GRCh38]
Chr6:123868829 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1805-21_1805-20dup duplication not provided [RCV001639501] Chr6:123260644..123260645 [GRCh38]
Chr6:123581789..123581790 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1976-225C>G single nucleotide variant not provided [RCV001676382] Chr6:123224356 [GRCh38]
Chr6:123545501 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1831+39G>C single nucleotide variant not provided [RCV001551393] Chr6:123260573 [GRCh38]
Chr6:123581718 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1975+213T>C single nucleotide variant not provided [RCV001562779] Chr6:123252199 [GRCh38]
Chr6:123573344 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1136-213G>A single nucleotide variant not provided [RCV001572043] Chr6:123382360 [GRCh38]
Chr6:123703505 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1322-130G>C single nucleotide variant not provided [RCV001568049] Chr6:123352716 [GRCh38]
Chr6:123673861 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1871-296A>G single nucleotide variant not provided [RCV001559052] Chr6:123256198 [GRCh38]
Chr6:123577343 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.437A>G (p.Asp146Gly) single nucleotide variant Cardiovascular phenotype [RCV004039560]|not provided [RCV001665445] Chr6:123530553 [GRCh38]
Chr6:123851698 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2014+78del deletion not provided [RCV001656861] Chr6:123224015 [GRCh38]
Chr6:123545160 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1720+76CA[14] microsatellite not provided [RCV001719651] Chr6:123271039..123271040 [GRCh38]
Chr6:123592184..123592185 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1720+76CA[13] microsatellite not provided [RCV001719652] Chr6:123271039..123271040 [GRCh38]
Chr6:123592184..123592185 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1165+48A>G single nucleotide variant not provided [RCV001566920] Chr6:123382070 [GRCh38]
Chr6:123703215 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1720+10G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001435020] Chr6:123271129 [GRCh38]
Chr6:123592274 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1906+10del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002542113] Chr6:123255857 [GRCh38]
Chr6:123577002 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1614G>A (p.Val538=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002539084] Chr6:123273347 [GRCh38]
Chr6:123594492 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1219+8T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525996] Chr6:123377858 [GRCh38]
Chr6:123699003 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.825C>T (p.Asp275=) single nucleotide variant Cardiovascular phenotype [RCV002427148]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538986] Chr6:123497221 [GRCh38]
Chr6:123818366 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly) single nucleotide variant Cardiovascular phenotype [RCV002416327]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552093] Chr6:123221510 [GRCh38]
Chr6:123542655 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1538-7T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553217] Chr6:123278354 [GRCh38]
Chr6:123599499 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1720G>A (p.Ala574Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001203591] Chr6:123271139 [GRCh38]
Chr6:123592284 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.22+1G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638740]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001169890] Chr6:123636753 [GRCh38]
Chr6:123957898 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu) single nucleotide variant Cardiovascular phenotype [RCV004032501]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563654] Chr6:123382139 [GRCh38]
Chr6:123703284 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1305G>A (p.Ala435=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002540844] Chr6:123366151 [GRCh38]
Chr6:123687296 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1186+93T>C single nucleotide variant not provided [RCV001569560] Chr6:123381277 [GRCh38]
Chr6:123702422 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.853+270A>C single nucleotide variant not provided [RCV001561992] Chr6:123496923 [GRCh38]
Chr6:123818068 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1165+130AG[19] microsatellite not provided [RCV001572157] Chr6:123381956..123381957 [GRCh38]
Chr6:123703101..123703102 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1165+130AG[15] microsatellite not provided [RCV001620811] Chr6:123381957..123381958 [GRCh38]
Chr6:123703102..123703103 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.992-203_992-202insAAAA insertion not provided [RCV002464841] Chr6:123438324..123438325 [GRCh38]
Chr6:123759469..123759470 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1369+107_1369+109del deletion not provided [RCV001558077] Chr6:123352430..123352432 [GRCh38]
Chr6:123673575..123673577 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.12:g.123637427A>G single nucleotide variant not provided [RCV001608911] Chr6:123637427 [GRCh38]
Chr6:123958572 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1322-224A>G single nucleotide variant not provided [RCV001593897] Chr6:123352810 [GRCh38]
Chr6:123673955 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q22.31(chr6:123858348-125320485)x1 copy number loss not provided [RCV002472875] Chr6:123858348..125320485 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.12:g.123637165A>C single nucleotide variant not provided [RCV001553531] Chr6:123637165 [GRCh38]
Chr6:123958310 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.391+42A>C single nucleotide variant not provided [RCV001568547] Chr6:123548412 [GRCh38]
Chr6:123869557 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1165+130AG[21] microsatellite not provided [RCV001560340] Chr6:123381956..123381957 [GRCh38]
Chr6:123703101..123703102 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV002471829] Chr6:123218645 [GRCh38]
Chr6:123539790 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1 copy number loss not provided [RCV002472894] Chr6:120059951..130033233 [GRCh37]
Chr6:6q22.31-22.33		 uncertain significance
NM_006073.4(TRDN):c.1105+112G>A single nucleotide variant not provided [RCV001719581] Chr6:123393512 [GRCh38]
Chr6:123714657 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1166-107A>C single nucleotide variant not provided [RCV001719582] Chr6:123381497 [GRCh38]
Chr6:123702642 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1322-179C>T single nucleotide variant not provided [RCV001581292] Chr6:123352765 [GRCh38]
Chr6:123673910 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1721-127A>T single nucleotide variant not provided [RCV001719588] Chr6:123269993 [GRCh38]
Chr6:123591138 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1165+130AG[18] microsatellite not provided [RCV001719580] Chr6:123381956..123381957 [GRCh38]
Chr6:123703101..123703102 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1165+130AG[17] microsatellite not provided [RCV001719586] Chr6:123381956..123381957 [GRCh38]
Chr6:123703101..123703102 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1804+163G>T single nucleotide variant not provided [RCV001637917] Chr6:123265155 [GRCh38]
Chr6:123586300 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1246+199C>T single nucleotide variant not provided [RCV001656276] Chr6:123377517 [GRCh38]
Chr6:123698662 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1906+122T>C single nucleotide variant not provided [RCV001598837] Chr6:123255745 [GRCh38]
Chr6:123576890 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1537+135G>T single nucleotide variant not provided [RCV001654799] Chr6:123278921 [GRCh38]
Chr6:123600066 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu) single nucleotide variant Cardiovascular phenotype [RCV002379516]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552538] Chr6:123366152 [GRCh38]
Chr6:123687297 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) single nucleotide variant Cardiovascular phenotype [RCV002320235]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002489543]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552462] Chr6:123547354 [GRCh38]
Chr6:123868499 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1867A>C (p.Lys623Gln) single nucleotide variant Cardiovascular phenotype [RCV004032942]|not provided [RCV001172176] Chr6:123259627 [GRCh38]
Chr6:123580772 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1273+31A>G single nucleotide variant not provided [RCV001588453] Chr6:123375574 [GRCh38]
Chr6:123696719 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1420+37T>A single nucleotide variant not provided [RCV001588459] Chr6:123337582 [GRCh38]
Chr6:123658727 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.284C>T (p.Ala95Val) single nucleotide variant Cardiovascular phenotype [RCV002434392]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001001216] Chr6:123548561 [GRCh38]
Chr6:123869706 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1805-21_1805-19dup duplication not provided [RCV001587530] Chr6:123260644..123260645 [GRCh38]
Chr6:123581789..123581790 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1673-3C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552450] Chr6:123271189 [GRCh38]
Chr6:123592334 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.23-149G>T single nucleotide variant not provided [RCV001588677] Chr6:123571281 [GRCh38]
Chr6:123892426 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile) single nucleotide variant Cardiovascular phenotype [RCV003160587]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554625]|not provided [RCV001700971] Chr6:123570931 [GRCh38]
Chr6:123892076 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1105+113C>A single nucleotide variant not provided [RCV001666024] Chr6:123393511 [GRCh38]
Chr6:123714656 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.23-69A>C single nucleotide variant not provided [RCV001582997] Chr6:123571201 [GRCh38]
Chr6:123892346 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.232+189T>C single nucleotide variant not provided [RCV001584813] Chr6:123570734 [GRCh38]
Chr6:123891879 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1976-96G>A single nucleotide variant not provided [RCV001641002] Chr6:123224227 [GRCh38]
Chr6:123545372 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.992-203G>A single nucleotide variant not provided [RCV001663225] Chr6:123438325 [GRCh38]
Chr6:123759470 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.2014+278A>G single nucleotide variant not provided [RCV001581275] Chr6:123223815 [GRCh38]
Chr6:123544960 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.992-203_992-202insAAA insertion not provided [RCV001616233] Chr6:123438324..123438325 [GRCh38]
Chr6:123759469..123759470 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1568-54T>G single nucleotide variant not provided [RCV001666638] Chr6:123274724 [GRCh38]
Chr6:123595869 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1721-24T>C single nucleotide variant not provided [RCV001540567] Chr6:123269890 [GRCh38]
Chr6:123591035 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1165+95G>A single nucleotide variant not provided [RCV001670082] Chr6:123382023 [GRCh38]
Chr6:123703168 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.233-162G>A single nucleotide variant not provided [RCV001567312] Chr6:123548774 [GRCh38]
Chr6:123869919 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del) microsatellite Cardiovascular phenotype [RCV003372969]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103913] Chr6:123548503..123548505 [GRCh38]
Chr6:123869648..123869650 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553306]|not provided [RCV004792678] Chr6:123571106..123571111 [GRCh38]
Chr6:123892251..123892256 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562402] Chr6:123388549 [GRCh38]
Chr6:123709694 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002567882] Chr6:123548499 [GRCh38]
Chr6:123869644 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1692G>C (p.Gln564His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563852] Chr6:123271167 [GRCh38]
Chr6:123592312 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter) single nucleotide variant Cardiovascular phenotype [RCV002418682]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561182] Chr6:123497235 [GRCh38]
Chr6:123818380 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562365] Chr6:123337666 [GRCh38]
Chr6:123658811 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1952-5T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561190]|TRDN-related disorder [RCV003908446] Chr6:123252440 [GRCh38]
Chr6:123573585 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter) single nucleotide variant Cardiovascular phenotype [RCV002402722]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563188] Chr6:123279056 [GRCh38]
Chr6:123600201 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.839G>A (p.Gly280Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561193] Chr6:123497207 [GRCh38]
Chr6:123818352 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553191] Chr6:123221507 [GRCh38]
Chr6:123542652 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2187G>T (p.Gln729His) single nucleotide variant Cardiovascular phenotype [RCV002427507]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552500]|not provided [RCV003327486] Chr6:123218604 [GRCh38]
Chr6:123539749 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.990A>G (p.Lys330=) single nucleotide variant Cardiovascular phenotype [RCV004033456]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560206]|not provided [RCV001773447]|not specified [RCV001195635] Chr6:123438945 [GRCh38]
Chr6:123760090 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1051+2T>C single nucleotide variant Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness [RCV001334502] Chr6:123438061 [GRCh38]
Chr6:123759206 [GRCh37]
Chr6:6q22.31		 pathogenic
NC_000006.11:g.116734559_123648104del deletion 6q22.1 Microdeletion Syndrome [RCV004799444] Chr6:116734559..123648104 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002539538] Chr6:123218704 [GRCh38]
Chr6:123539849 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1720+76CA[16] microsatellite not provided [RCV001540079] Chr6:123271039..123271040 [GRCh38]
Chr6:123592184..123592185 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1673-8T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104162] Chr6:123271194 [GRCh38]
Chr6:123592339 [GRCh37]
Chr6:6q22.31		 likely benign
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543113] Chr6:123530545 [GRCh38]
Chr6:123851690 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1576A>G (p.Ile526Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543702] Chr6:123274662 [GRCh38]
Chr6:123595807 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123868475)_(123869767_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001300576] Chr6:123868475..123869767 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1693G>A (p.Val565Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538496] Chr6:123271166 [GRCh38]
Chr6:123592311 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) single nucleotide variant Cardiovascular phenotype [RCV002412005]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002476458]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543645] Chr6:123393674 [GRCh38]
Chr6:123714819 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1906+6T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103944] Chr6:123255861 [GRCh38]
Chr6:123577006 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1545A>C (p.Gln515His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103957] Chr6:123278340 [GRCh38]
Chr6:123599485 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1661A>C (p.His554Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543605] Chr6:123272975 [GRCh38]
Chr6:123594120 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu) single nucleotide variant Cardiovascular phenotype [RCV003382520]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543795] Chr6:123375621 [GRCh38]
Chr6:123696766 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546488] Chr6:123316475 [GRCh38]
Chr6:123637620 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.717del (p.Val240fs) deletion Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness [RCV001332735] Chr6:123503795 [GRCh38]
Chr6:123824940 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.984A>T (p.Lys328Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002539488] Chr6:123438951 [GRCh38]
Chr6:123760096 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1660C>G (p.His554Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543115] Chr6:123272976 [GRCh38]
Chr6:123594121 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) single nucleotide variant Cardiovascular phenotype [RCV002404803]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002493760]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547418]|not provided [RCV002282524] Chr6:123271159 [GRCh38]
Chr6:123592304 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123581747)_(123581793_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001324925] Chr6:123581747..123581793 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro) single nucleotide variant Cardiovascular phenotype [RCV002456521]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547497] Chr6:123548499 [GRCh38]
Chr6:123869644 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546911] Chr6:123530527 [GRCh38]
Chr6:123851672 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123714759)_(123786138_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103971] Chr6:123714759..123786138 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys) single nucleotide variant Cardiovascular phenotype [RCV002418932]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543189] Chr6:123252420 [GRCh38]
Chr6:123573565 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1770A>C (p.Pro590=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554108] Chr6:123267720 [GRCh38]
Chr6:123588865 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.425-11dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003154032]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001803303] Chr6:123530570..123530571 [GRCh38]
Chr6:123851715..123851716 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.22+29A>G single nucleotide variant Cardiovascular phenotype [RCV002432068]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002499793]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550267]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001580169] Chr6:123636725 [GRCh38]
Chr6:123957870 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.804A>G (p.Ala268=) single nucleotide variant Cardiovascular phenotype [RCV002420882]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552688] Chr6:123497242 [GRCh38]
Chr6:123818387 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003154023] Chr6:123548485 [GRCh38]
Chr6:123869630 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.527A>T (p.Glu176Val) single nucleotide variant Cardiovascular phenotype [RCV004037094]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548627] Chr6:123516164 [GRCh38]
Chr6:123837309 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550030] Chr6:123512326 [GRCh38]
Chr6:123833471 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.52G>C (p.Asp18His) single nucleotide variant Cardiovascular phenotype [RCV002350661]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547535] Chr6:123571103 [GRCh38]
Chr6:123892248 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543671] Chr6:123218683 [GRCh38]
Chr6:123539828 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546903] Chr6:123388525 [GRCh38]
Chr6:123709670 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550126] Chr6:123382118 [GRCh38]
Chr6:123703263 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg) single nucleotide variant Cardiovascular phenotype [RCV004036760]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547745] Chr6:123255869 [GRCh38]
Chr6:123577014 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn) single nucleotide variant Cardiovascular phenotype [RCV004679080]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546218] Chr6:123337644 [GRCh38]
Chr6:123658789 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile) single nucleotide variant Cardiovascular phenotype [RCV004035546]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537956]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001287255] Chr6:123224117 [GRCh38]
Chr6:123545262 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1052-9C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548641] Chr6:123393686 [GRCh38]
Chr6:123714831 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548642] Chr6:123366155 [GRCh38]
Chr6:123687300 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1975+5G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002486461]|Catecholaminergic polymorphic ventricular tachycardia [RCV001352178]|not provided [RCV001587368] Chr6:123252407 [GRCh38]
Chr6:123573552 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu) single nucleotide variant Cardiovascular phenotype [RCV002402836]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103946] Chr6:123274656 [GRCh38]
Chr6:123595801 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1766C>A (p.Pro589His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002499692]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547051] Chr6:123267724 [GRCh38]
Chr6:123588869 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123539737)_(123957930_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV001300577] Chr6:123539737..123957930 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123539726)_(123825066_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV001300578] Chr6:123539726..123825066 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala) single nucleotide variant Cardiovascular phenotype [RCV002402863]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543214] Chr6:123375629 [GRCh38]
Chr6:123696774 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter) single nucleotide variant Cardiovascular phenotype [RCV004681154]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550924] Chr6:123218606 [GRCh38]
Chr6:123539751 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) single nucleotide variant Cardiovascular phenotype [RCV003169821]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002488111]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547812] Chr6:123548469 [GRCh38]
Chr6:123869614 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1273+4T>C single nucleotide variant Cardiovascular phenotype [RCV002375388]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543506] Chr6:123375601 [GRCh38]
Chr6:123696746 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.558C>A (p.His186Gln) single nucleotide variant Cardiovascular phenotype [RCV002350590]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546081] Chr6:123512355 [GRCh38]
Chr6:123833500 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123851641)_(123851720_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001344352] Chr6:123851641..123851720 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123818328)_(123825056_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001344353] Chr6:123818328..123825056 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1721-4A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547008]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003741256]|not provided [RCV001664841] Chr6:123269870 [GRCh38]
Chr6:123591015 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1622A>G (p.His541Arg) single nucleotide variant Cardiovascular phenotype [RCV002404822]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547089] Chr6:123273339 [GRCh38]
Chr6:123594484 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550115] Chr6:123352568 [GRCh38]
Chr6:123673713 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.232+6T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543236] Chr6:123570917 [GRCh38]
Chr6:123892062 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.802G>A (p.Ala268Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543853] Chr6:123497244 [GRCh38]
Chr6:123818389 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu) single nucleotide variant Cardiovascular phenotype [RCV004679058]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543130] Chr6:123271169 [GRCh38]
Chr6:123592314 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123539736)_(123545286_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001324926] Chr6:123539736..123545286 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104031] Chr6:123497237 [GRCh38]
Chr6:123818382 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr) single nucleotide variant Cardiovascular phenotype [RCV002341784]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550063] Chr6:123530508 [GRCh38]
Chr6:123851653 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1274-6T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543638] Chr6:123366188 [GRCh38]
Chr6:123687333 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104053] Chr6:123218624 [GRCh38]
Chr6:123539769 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1624+3A>G single nucleotide variant Cardiovascular phenotype [RCV002404876]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547861] Chr6:123273334 [GRCh38]
Chr6:123594479 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala) single nucleotide variant Cardiovascular phenotype [RCV002402880]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543665] Chr6:123278338 [GRCh38]
Chr6:123599483 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548591] Chr6:123571114 [GRCh38]
Chr6:123892259 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547753] Chr6:123377897 [GRCh38]
Chr6:123699042 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547868] Chr6:123260624 [GRCh38]
Chr6:123581769 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1776A>C (p.Ile592=) single nucleotide variant Cardiovascular phenotype [RCV003382570]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551616] Chr6:123267714 [GRCh38]
Chr6:123588859 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) single nucleotide variant Cardiovascular phenotype [RCV002420805]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002499742]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548570] Chr6:123252433 [GRCh38]
Chr6:123573578 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1671A>G (p.Pro557=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546685]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001334503] Chr6:123272965 [GRCh38]
Chr6:123594110 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1537+5G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547489] Chr6:123279051 [GRCh38]
Chr6:123600196 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1472-5C>T single nucleotide variant Cardiovascular phenotype [RCV002395935]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554036] Chr6:123316500 [GRCh38]
Chr6:123637645 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr) single nucleotide variant Cardiovascular phenotype [RCV002357121]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543235]|not provided [RCV004720848] Chr6:123382127 [GRCh38]
Chr6:123703272 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) deletion Cardiovascular phenotype [RCV002384438]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002486311]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546168] Chr6:123366148..123366156 [GRCh38]
Chr6:123687293..123687301 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.923C>T (p.Ala308Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547373] Chr6:123464914 [GRCh38]
Chr6:123786059 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.117C>T (p.Asp39=) single nucleotide variant Cardiovascular phenotype [RCV002342052]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561291] Chr6:123571038 [GRCh38]
Chr6:123892183 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1695A>G (p.Val565=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557549] Chr6:123271164 [GRCh38]
Chr6:123592309 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1952-1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550244] Chr6:123252436 [GRCh38]
Chr6:123573581 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.237C>T (p.Ser79=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557545] Chr6:123548608 [GRCh38]
Chr6:123869753 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1215A>G (p.Glu405=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554067] Chr6:123377870 [GRCh38]
Chr6:123699015 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1246+10A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561983] Chr6:123377706 [GRCh38]
Chr6:123698851 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-36G>A single nucleotide variant not provided [RCV001536268] Chr6:123273399 [GRCh38]
Chr6:123594544 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1952-8C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552729]|not provided [RCV004707585] Chr6:123252443 [GRCh38]
Chr6:123573588 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1975+8C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002501652]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562006] Chr6:123252404 [GRCh38]
Chr6:123573549 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1805-2A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550242] Chr6:123260640 [GRCh38]
Chr6:123581785 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.793+7A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564165] Chr6:123503712 [GRCh38]
Chr6:123824857 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1701T>G (p.Ala567=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561266] Chr6:123271158 [GRCh38]
Chr6:123592303 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1567+2T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550962]|not specified [RCV002298941] Chr6:123278316 [GRCh38]
Chr6:123599461 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1471+7T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554000] Chr6:123331872 [GRCh38]
Chr6:123653017 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.885G>A (p.Pro295=) single nucleotide variant Cardiovascular phenotype [RCV004681181]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002559314] Chr6:123464952 [GRCh38]
Chr6:123786097 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.11:g.(?_123957870)_(123957930_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001390056] Chr6:123957870..123957930 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.610+10C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104088] Chr6:123512293 [GRCh38]
Chr6:123833438 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1273+7T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554078] Chr6:123375598 [GRCh38]
Chr6:123696743 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.531del (p.Glu178fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002504650]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551565] Chr6:123516160 [GRCh38]
Chr6:123837305 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.894A>G (p.Gln298=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555571] Chr6:123464943 [GRCh38]
Chr6:123786088 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+7C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552708] Chr6:123438056 [GRCh38]
Chr6:123759201 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2015-9A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104089] Chr6:123221531 [GRCh38]
Chr6:123542676 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.480T>G (p.Thr160=) single nucleotide variant Cardiovascular phenotype [RCV003298754]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555551] Chr6:123530510 [GRCh38]
Chr6:123851655 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1420+7G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555135] Chr6:123337612 [GRCh38]
Chr6:123658757 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1321+39G>C single nucleotide variant not provided [RCV001616850] Chr6:123366096 [GRCh38]
Chr6:123687241 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.693G>A (p.Lys231=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560374] Chr6:123503819 [GRCh38]
Chr6:123824964 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1247-281T>C single nucleotide variant not provided [RCV001589359] Chr6:123375912 [GRCh38]
Chr6:123697057 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1871-219C>T single nucleotide variant not provided [RCV001682462] Chr6:123256121 [GRCh38]
Chr6:123577266 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1805-224A>G single nucleotide variant not provided [RCV001583107] Chr6:123260862 [GRCh38]
Chr6:123582007 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.991+94C>T single nucleotide variant not provided [RCV001589930] Chr6:123438850 [GRCh38]
Chr6:123759995 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1804+295A>G single nucleotide variant not provided [RCV001674560] Chr6:123265023 [GRCh38]
Chr6:123586168 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.610+42A>T single nucleotide variant not provided [RCV001590243] Chr6:123512261 [GRCh38]
Chr6:123833406 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1870+94G>A single nucleotide variant not provided [RCV001675226] Chr6:123259530 [GRCh38]
Chr6:123580675 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1597+10G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560341] Chr6:123274631 [GRCh38]
Chr6:123595776 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+1G>T single nucleotide variant Cardiovascular phenotype [RCV002395861]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550256] Chr6:123438062 [GRCh38]
Chr6:123759207 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1365G>A (p.Glu455=) single nucleotide variant Cardiovascular phenotype [RCV003298755]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555561]|not provided [RCV001762680] Chr6:123352543 [GRCh38]
Chr6:123673688 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1805-6C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564302]|TRDN-related disorder [RCV003980463]|not provided [RCV001547804] Chr6:123260644 [GRCh38]
Chr6:123581789 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_006073.4(TRDN):c.1721-10T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562663] Chr6:123269876 [GRCh38]
Chr6:123591021 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.576A>G (p.Lys192=) single nucleotide variant Cardiovascular phenotype [RCV002359133]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002567964] Chr6:123512337 [GRCh38]
Chr6:123833482 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.11:g.(?_123836792)_123837316del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001378354]   likely pathogenic
NM_006073.4(TRDN):c.606G>A (p.Ala202=) single nucleotide variant Cardiovascular phenotype [RCV002357324]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552725] Chr6:123512307 [GRCh38]
Chr6:123833452 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1273+8G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104104] Chr6:123375597 [GRCh38]
Chr6:123696742 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.300G>A (p.Thr100=) single nucleotide variant Cardiovascular phenotype [RCV002438969]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554062]|not provided [RCV004707591] Chr6:123548545 [GRCh38]
Chr6:123869690 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.423del (p.Glu142fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104072]|Catecholaminergic polymorphic ventricular tachycardia [RCV004017830] Chr6:123547341 [GRCh38]
Chr6:123868486 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.1050del (p.Glu351fs) deletion Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001783906] Chr6:123438064 [GRCh38]
Chr6:123759209 [GRCh37]
Chr6:6q22.31		 likely pathogenic|no classifications from unflagged records
NM_006073.4(TRDN):c.992-206_992-204dup duplication not provided [RCV001762800] Chr6:123438325..123438326 [GRCh38]
Chr6:123759470..123759471 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.523A>T (p.Arg175Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001783905] Chr6:123516168 [GRCh38]
Chr6:123837313 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.853+3A>G single nucleotide variant Cardiovascular phenotype [RCV004040053]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538729]|not provided [RCV001754203] Chr6:123497190 [GRCh38]
Chr6:123818335 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1136-1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002503273]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544277]|not provided [RCV002307760] Chr6:123382148 [GRCh38]
Chr6:123703293 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002496078]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002539917]|not provided [RCV001751978] Chr6:123271177 [GRCh38]
Chr6:123592322 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.610+1G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001785084] Chr6:123512302 [GRCh38]
Chr6:123833447 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002542330]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001803515] Chr6:123273006 [GRCh38]
Chr6:123594151 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1720+2T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV001785083] Chr6:123271137 [GRCh38]
Chr6:123592282 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.992-203_992-202insA insertion not provided [RCV001733354] Chr6:123438324..123438325 [GRCh38]
Chr6:123759469..123759470 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1475C>T (p.Pro492Leu) single nucleotide variant Cardiovascular phenotype [RCV004040228]|not provided [RCV001758827] Chr6:123316492 [GRCh38]
Chr6:123637637 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1454C>T (p.Ala485Val) single nucleotide variant Cardiovascular phenotype [RCV004046732]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548204] Chr6:123331896 [GRCh38]
Chr6:123653041 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu) single nucleotide variant Cardiovascular phenotype [RCV004046755]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548216] Chr6:123503857 [GRCh38]
Chr6:123825002 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.9G>C (p.Glu3Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002573384] Chr6:123636767 [GRCh38]
Chr6:123957912 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.128C>T (p.Thr43Met) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551044] Chr6:123571027 [GRCh38]
Chr6:123892172 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545784] Chr6:123259632 [GRCh38]
Chr6:123580777 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.232+6T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560511] Chr6:123570917 [GRCh38]
Chr6:123892062 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123581598)_(123581802_?)del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV001969976] Chr6:123581598..123581802 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.836A>G (p.His279Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002579648] Chr6:123497210 [GRCh38]
Chr6:123818355 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545493] Chr6:123366180 [GRCh38]
Chr6:123687325 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro) single nucleotide variant Cardiovascular phenotype [RCV002423098]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561538] Chr6:123224111 [GRCh38]
Chr6:123545256 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:123867333-124002494) copy number loss not specified [RCV002053617] Chr6:123867333..124002494 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1738+8A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002569317] Chr6:123269841 [GRCh38]
Chr6:123590986 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.164C>T (p.Ala55Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002592531] Chr6:123570991 [GRCh38]
Chr6:123892136 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547997] Chr6:123530550 [GRCh38]
Chr6:123851695 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1]) microsatellite Cardiovascular phenotype [RCV004686710]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002571209] Chr6:123516154..123516159 [GRCh38]
Chr6:123837299..123837304 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe) single nucleotide variant Cardiovascular phenotype [RCV002423069]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560520] Chr6:123571075 [GRCh38]
Chr6:123892220 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.91del (p.Val31fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564390] Chr6:123571064 [GRCh38]
Chr6:123892209 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002489939]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545438] Chr6:123366173 [GRCh38]
Chr6:123687318 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1975+8C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560726] Chr6:123252404 [GRCh38]
Chr6:123573549 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1321+11C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545329] Chr6:123366124 [GRCh38]
Chr6:123687269 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.274G>T (p.Val92Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548121] Chr6:123548571 [GRCh38]
Chr6:123869716 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002497960]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002579629] Chr6:123377739 [GRCh38]
Chr6:123698884 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553574] Chr6:123388524 [GRCh38]
Chr6:123709669 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550455] Chr6:123337623 [GRCh38]
Chr6:123658768 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552856] Chr6:123255119 [GRCh38]
Chr6:123576264 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1794del (p.Lys598fs) deletion Cardiovascular phenotype [RCV003375419]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555272]|not provided [RCV002224109] Chr6:123265328 [GRCh38]
Chr6:123586473 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.1952-6T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564419] Chr6:123252441 [GRCh38]
Chr6:123573586 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107879] Chr6:123503750 [GRCh38]
Chr6:123824895 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551157] Chr6:123224093 [GRCh38]
Chr6:123545238 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.991+3A>G single nucleotide variant Cardiovascular phenotype [RCV002386651]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552816] Chr6:123438941 [GRCh38]
Chr6:123760086 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557855] Chr6:123352580 [GRCh38]
Chr6:123673725 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104158] Chr6:123274661 [GRCh38]
Chr6:123595806 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) single nucleotide variant Cardiovascular phenotype [RCV002397971]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002503671]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562132]|not provided [RCV004793634] Chr6:123273360 [GRCh38]
Chr6:123594505 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1420+2T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002571220] Chr6:123337617 [GRCh38]
Chr6:123658762 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002484452]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555757] Chr6:123366170 [GRCh38]
Chr6:123687315 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.605C>T (p.Ala202Val) single nucleotide variant Cardiovascular phenotype [RCV002352713]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002625346] Chr6:123512308 [GRCh38]
Chr6:123833453 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002571342] Chr6:123393669 [GRCh38]
Chr6:123714814 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) single nucleotide variant Cardiovascular phenotype [RCV002324333]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002507047]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557820]|not provided [RCV003125986] Chr6:123548510 [GRCh38]
Chr6:123869655 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.790A>G (p.Lys264Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555211] Chr6:123503722 [GRCh38]
Chr6:123824867 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548819] Chr6:123224096 [GRCh38]
Chr6:123545241 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.439_440del (p.Lys147fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555321] Chr6:123530550..123530551 [GRCh38]
Chr6:123851695..123851696 [GRCh37]
Chr6:6q22.31		 pathogenic
GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386) copy number loss not specified [RCV002053616] Chr6:122839432..128801386 [GRCh37]
Chr6:6q22.31-22.33		 pathogenic
NM_006073.4(TRDN):c.853+6C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563406] Chr6:123497187 [GRCh38]
Chr6:123818332 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557849] Chr6:123548474 [GRCh38]
Chr6:123869619 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1629A>G (p.Gln543=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548157] Chr6:123273007 [GRCh38]
Chr6:123594152 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1105+1del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548162] Chr6:123393623 [GRCh38]
Chr6:123714768 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.899C>G (p.Ser300Cys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555786] Chr6:123464938 [GRCh38]
Chr6:123786083 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) single nucleotide variant Cardiovascular phenotype [RCV002344065]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560543]|not provided [RCV002305635] Chr6:123516150 [GRCh38]
Chr6:123837295 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002625342] Chr6:123273005 [GRCh38]
Chr6:123594150 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548883] Chr6:123267737 [GRCh38]
Chr6:123588882 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1499T>C (p.Met500Thr) single nucleotide variant Cardiovascular phenotype [RCV004041273]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552850] Chr6:123316468 [GRCh38]
Chr6:123637613 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002573389] Chr6:123548489 [GRCh38]
Chr6:123869634 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123786031)_(123786148_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107880] Chr6:123786031..123786148 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552226] Chr6:123570929 [GRCh38]
Chr6:123892074 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1051+3A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561313] Chr6:123438060 [GRCh38]
Chr6:123759205 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1624+1G>C single nucleotide variant Cardiovascular phenotype [RCV003303254]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107869] Chr6:123273336 [GRCh38]
Chr6:123594481 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560746] Chr6:123337646 [GRCh38]
Chr6:123658791 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1510+5G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550375] Chr6:123316452 [GRCh38]
Chr6:123637597 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563519] Chr6:123267722 [GRCh38]
Chr6:123588867 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002592552] Chr6:123218626 [GRCh38]
Chr6:123539771 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1052-9C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV002027178] Chr6:123393686 [GRCh38]
Chr6:123714831 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr) single nucleotide variant Cardiovascular phenotype [RCV003303391]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002556449] Chr6:123503782 [GRCh38]
Chr6:123824927 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548110] Chr6:123218719 [GRCh38]
Chr6:123539864 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123759188)_(123760168_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107911] Chr6:123759188..123760168 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002592666] Chr6:123255892 [GRCh38]
Chr6:123577037 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1875dup (p.Ala626fs) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545511] Chr6:123255897..123255898 [GRCh38]
Chr6:123577042..123577043 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.392-7G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560656] Chr6:123547379 [GRCh38]
Chr6:123868524 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.11:g.(?_123658744)_(123760168_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107915] Chr6:123658744..123760168 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1870+5A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002642038] Chr6:123259619 [GRCh38]
Chr6:123580764 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu) single nucleotide variant Cardiovascular phenotype [RCV002425212]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555300] Chr6:123218653 [GRCh38]
Chr6:123539798 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123539746)_(123957920_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107889] Chr6:123539746..123957920 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123637592)_(123637650_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107908] Chr6:123637592..123637650 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) single nucleotide variant Cardiovascular phenotype [RCV002425141]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002506917]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551003] Chr6:123218615 [GRCh38]
Chr6:123539760 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002549073] Chr6:123331907 [GRCh38]
Chr6:123653052 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002549038] Chr6:123377740 [GRCh38]
Chr6:123698885 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548053] Chr6:123503757 [GRCh38]
Chr6:123824902 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) single nucleotide variant Cardiovascular phenotype [RCV002423150]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002479598]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002569171] Chr6:123218681 [GRCh38]
Chr6:123539826 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2014+6T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552129] Chr6:123224087 [GRCh38]
Chr6:123545232 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1871-2A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557587] Chr6:123255904 [GRCh38]
Chr6:123577049 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly) single nucleotide variant Cardiovascular phenotype [RCV002458731]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552953] Chr6:123548480 [GRCh38]
Chr6:123869625 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492298]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002642014] Chr6:123382133 [GRCh38]
Chr6:123703278 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2050+1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002549079] Chr6:123221486 [GRCh38]
Chr6:123542631 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu) single nucleotide variant Cardiovascular phenotype [RCV002397846]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552959] Chr6:123278336 [GRCh38]
Chr6:123599481 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.391+1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002507817]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548881] Chr6:123548453 [GRCh38]
Chr6:123869598 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NC_000006.11:g.(?_123573537)_(123595835_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107910] Chr6:123573537..123595835 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545316] Chr6:123265318 [GRCh38]
Chr6:123586463 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.610+20T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551214] Chr6:123512283 [GRCh38]
Chr6:123833428 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1879G>C (p.Asp627His) single nucleotide variant Cardiovascular phenotype [RCV003299055]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545886] Chr6:123255894 [GRCh38]
Chr6:123577039 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2092A>C (p.Asn698His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002556331] Chr6:123218699 [GRCh38]
Chr6:123539844 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro) single nucleotide variant Cardiovascular phenotype [RCV002361237]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557749] Chr6:123503860 [GRCh38]
Chr6:123825005 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552270] Chr6:123271168 [GRCh38]
Chr6:123592313 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560452] Chr6:123548535 [GRCh38]
Chr6:123869680 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.484+6C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555402] Chr6:123530500 [GRCh38]
Chr6:123851645 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123536484)_(123959238_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV001920656] Chr6:123536484..123959238 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552192] Chr6:123382135 [GRCh38]
Chr6:123703280 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr) single nucleotide variant Cardiovascular phenotype [RCV002454301]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550435] Chr6:123548493 [GRCh38]
Chr6:123869638 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002642152] Chr6:123279056 [GRCh38]
Chr6:123600201 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.833T>C (p.Val278Ala) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545652] Chr6:123497213 [GRCh38]
Chr6:123818358 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1321+1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002642023] Chr6:123366134 [GRCh38]
Chr6:123687279 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562796] Chr6:123512344 [GRCh38]
Chr6:123833489 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2015-6C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548994] Chr6:123221528 [GRCh38]
Chr6:123542673 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu) single nucleotide variant Cardiovascular phenotype [RCV004681318]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002556398] Chr6:123272988 [GRCh38]
Chr6:123594133 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1598-6T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548046] Chr6:123273369 [GRCh38]
Chr6:123594514 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547903] Chr6:123503770 [GRCh38]
Chr6:123824915 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002608009] Chr6:123316480 [GRCh38]
Chr6:123637625 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1804+2T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557742] Chr6:123265316 [GRCh38]
Chr6:123586461 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552339] Chr6:123393671 [GRCh38]
Chr6:123714816 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn) single nucleotide variant Cardiovascular phenotype [RCV004043844]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563512] Chr6:123218731 [GRCh38]
Chr6:123539876 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002484520]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557753] Chr6:123512309 [GRCh38]
Chr6:123833454 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) single nucleotide variant Cardiovascular phenotype [RCV003167347]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002491985]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561405] Chr6:123571123 [GRCh38]
Chr6:123892268 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.90A>T (p.Lys30Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107896] Chr6:123571065 [GRCh38]
Chr6:123892210 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.231A>G (p.Ser77=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550474] Chr6:123570924 [GRCh38]
Chr6:123892069 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu) single nucleotide variant Cardiovascular phenotype [RCV002331609]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002657713] Chr6:123530551 [GRCh38]
Chr6:123851696 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del) microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551052]|not provided [RCV004793551] Chr6:123438981..123438983 [GRCh38]
Chr6:123760126..123760128 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002625415] Chr6:123255899 [GRCh38]
Chr6:123577044 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555400] Chr6:123503854 [GRCh38]
Chr6:123824999 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg) single nucleotide variant Cardiovascular phenotype [RCV003303664]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551181] Chr6:123218609 [GRCh38]
Chr6:123539754 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1187-3C>T single nucleotide variant Cardiovascular phenotype [RCV002334888]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002556431] Chr6:123377901 [GRCh38]
Chr6:123699046 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1600A>G (p.Ile534Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002556304] Chr6:123273361 [GRCh38]
Chr6:123594506 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1052-9del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002579526] Chr6:123393686 [GRCh38]
Chr6:123714831 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555344] Chr6:123271175 [GRCh38]
Chr6:123592320 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553441] Chr6:123393624 [GRCh38]
Chr6:123714769 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1976-6C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560608] Chr6:123224137 [GRCh38]
Chr6:123545282 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2051-19_2051-18inv inversion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003053414] Chr6:123218758..123218759 [GRCh38]
Chr6:123539903..123539904 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.931+14T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003053445] Chr6:123464892 [GRCh38]
Chr6:123786037 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-16A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553713] Chr6:123388567 [GRCh38]
Chr6:123709712 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1597+20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007038] Chr6:123274621 [GRCh38]
Chr6:123595766 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1784-17del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061744] Chr6:123265355 [GRCh38]
Chr6:123586500 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1672+8G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003089089] Chr6:123272956 [GRCh38]
Chr6:123594101 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.854-17A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561653] Chr6:123465000 [GRCh38]
Chr6:123786145 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1964dup (p.Arg656fs) duplication not provided [RCV002224758] Chr6:123252422..123252423 [GRCh38]
Chr6:123573567..123573568 [GRCh37]
Chr6:6q22.31		 likely pathogenic|no classifications from unflagged records
NM_006073.4(TRDN):c.1051+13_1051+16del microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003089007] Chr6:123438047..123438050 [GRCh38]
Chr6:123759192..123759195 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1567+18A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553704] Chr6:123278300 [GRCh38]
Chr6:123599445 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.232+8C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551288] Chr6:123570915 [GRCh38]
Chr6:123892060 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1322-2A>C single nucleotide variant not provided [RCV002223476] Chr6:123352588 [GRCh38]
Chr6:123673733 [GRCh37]
Chr6:6q22.31		 likely pathogenic|no classifications from unflagged records
NM_006073.4(TRDN):c.424+8G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561580] Chr6:123547332 [GRCh38]
Chr6:123868477 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560758] Chr6:123438043 [GRCh38]
Chr6:123759188 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.162_178del (p.Ile54fs) deletion not provided [RCV002224229] Chr6:123570977..123570993 [GRCh38]
Chr6:123892122..123892138 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.992-12T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560756] Chr6:123438134 [GRCh38]
Chr6:123759279 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.417A>G (p.Arg139=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003053448] Chr6:123547347 [GRCh38]
Chr6:123868492 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1186+11G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551329] Chr6:123381359 [GRCh38]
Chr6:123702504 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2050+16G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003025430] Chr6:123221471 [GRCh38]
Chr6:123542616 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1784-8C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993434] Chr6:123265346 [GRCh38]
Chr6:123586491 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.992-17T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007003] Chr6:123438139 [GRCh38]
Chr6:123759284 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.392-6G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003006978] Chr6:123547378 [GRCh38]
Chr6:123868523 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1471+11A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070572] Chr6:123331868 [GRCh38]
Chr6:123653013 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1052-16T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561573] Chr6:123393693 [GRCh38]
Chr6:123714838 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1329T>C (p.Pro443=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003088995] Chr6:123352579 [GRCh38]
Chr6:123673724 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1721-11A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562290] Chr6:123269877 [GRCh38]
Chr6:123591022 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1471+10T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015337] Chr6:123331869 [GRCh38]
Chr6:123653014 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.123G>A (p.Val41=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003081080] Chr6:123571032 [GRCh38]
Chr6:123892177 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1533T>C (p.Pro511=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551283] Chr6:123279060 [GRCh38]
Chr6:123600205 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.611-14T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003081058] Chr6:123503915 [GRCh38]
Chr6:123825060 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1783+18G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993466] Chr6:123267689 [GRCh38]
Chr6:123588834 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2014+17T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551333] Chr6:123224076 [GRCh38]
Chr6:123545221 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1625-17C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003033314] Chr6:123273028 [GRCh38]
Chr6:123594173 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1511-20A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061780] Chr6:123279102 [GRCh38]
Chr6:123600247 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1420+20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070649] Chr6:123337599 [GRCh38]
Chr6:123658744 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2014+15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061767] Chr6:123224078 [GRCh38]
Chr6:123545223 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1101A>G (p.Ala367=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104175] Chr6:123393628 [GRCh38]
Chr6:123714773 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.931+10T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002494140]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003006989] Chr6:123464896 [GRCh38]
Chr6:123786041 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2051-13C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551248] Chr6:123218753 [GRCh38]
Chr6:123539898 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1952-15del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562270] Chr6:123252450 [GRCh38]
Chr6:123573595 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1002T>C (p.Asp334=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070570] Chr6:123438112 [GRCh38]
Chr6:123759257 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1273+16T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553701] Chr6:123375589 [GRCh38]
Chr6:123696734 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1416T>C (p.Asp472=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007046] Chr6:123337623 [GRCh38]
Chr6:123658768 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+14T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551281] Chr6:123438049 [GRCh38]
Chr6:123759194 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1805-6_1805-4del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526113] Chr6:123260642..123260644 [GRCh38]
Chr6:123581787..123581789 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.931+18dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007142] Chr6:123464887..123464888 [GRCh38]
Chr6:123786032..123786033 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1951+15C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070626] Chr6:123255066 [GRCh38]
Chr6:123576211 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1410G>T (p.Leu470=) single nucleotide variant Cardiovascular phenotype [RCV002391154]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551302] Chr6:123337629 [GRCh38]
Chr6:123658774 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1421-20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061708] Chr6:123331949 [GRCh38]
Chr6:123653094 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1510+10T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007123] Chr6:123316447 [GRCh38]
Chr6:123637592 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1136-14C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007130] Chr6:123382161 [GRCh38]
Chr6:123703306 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.931+19C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561615] Chr6:123464887 [GRCh38]
Chr6:123786032 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1098A>C (p.Ala366=) single nucleotide variant Cardiovascular phenotype [RCV002454506]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061735] Chr6:123393631 [GRCh38]
Chr6:123714776 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.630T>A (p.Thr210=) single nucleotide variant Cardiovascular phenotype [RCV002361467]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562316] Chr6:123503882 [GRCh38]
Chr6:123825027 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1538-19T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551324] Chr6:123278366 [GRCh38]
Chr6:123599511 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.705A>G (p.Ala235=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003081090] Chr6:123503807 [GRCh38]
Chr6:123824952 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-1G>T single nucleotide variant not provided [RCV002224364] Chr6:123388552 [GRCh38]
Chr6:123709697 [GRCh37]
Chr6:6q22.31		 likely pathogenic|no classifications from unflagged records
NM_006073.4(TRDN):c.1831+17T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007063] Chr6:123260595 [GRCh38]
Chr6:123581740 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1951+13T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061781] Chr6:123255068 [GRCh38]
Chr6:123576213 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1567+10T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553013] Chr6:123278308 [GRCh38]
Chr6:123599453 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1220-19dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015348] Chr6:123377760..123377761 [GRCh38]
Chr6:123698905..123698906 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.610+19A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003033315] Chr6:123512284 [GRCh38]
Chr6:123833429 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1832-15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562294] Chr6:123259677 [GRCh38]
Chr6:123580822 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1683T>C (p.Val561=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555436] Chr6:123271176 [GRCh38]
Chr6:123592321 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1322-21_1322-20del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015306] Chr6:123352606..123352607 [GRCh38]
Chr6:123673751..123673752 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1784-16del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003053406] Chr6:123265354 [GRCh38]
Chr6:123586499 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1511-13del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070633] Chr6:123279095 [GRCh38]
Chr6:123600240 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.2014+20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003081104] Chr6:123224073 [GRCh38]
Chr6:123545218 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.22+18C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561592] Chr6:123636736 [GRCh38]
Chr6:123957881 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1458C>G (p.Ser486=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554381] Chr6:123331892 [GRCh38]
Chr6:123653037 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.168G>A (p.Leu56=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003033346] Chr6:123570987 [GRCh38]
Chr6:123892132 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-19G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007054] Chr6:123388570 [GRCh38]
Chr6:123709715 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1052-19_1052-18del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015369] Chr6:123393695..123393696 [GRCh38]
Chr6:123714840..123714841 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.550+12C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061798] Chr6:123516129 [GRCh38]
Chr6:123837274 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1784-10dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003093801] Chr6:123265347..123265348 [GRCh38]
Chr6:123586492..123586493 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.384T>C (p.Thr128=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015269] Chr6:123548461 [GRCh38]
Chr6:123869606 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1420+8_1420+9del microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560783] Chr6:123337610..123337611 [GRCh38]
Chr6:123658755..123658756 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1131G>A (p.Lys377=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003088980] Chr6:123388526 [GRCh38]
Chr6:123709671 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.81C>T (p.Ser27=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993469] Chr6:123571074 [GRCh38]
Chr6:123892219 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1321+15A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003089063] Chr6:123366120 [GRCh38]
Chr6:123687265 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2091C>T (p.Tyr697=) single nucleotide variant Cardiovascular phenotype [RCV004044952]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551276] Chr6:123218700 [GRCh38]
Chr6:123539845 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1136-19T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003006980] Chr6:123382166 [GRCh38]
Chr6:123703311 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.348T>G (p.Ser116=) single nucleotide variant Cardiovascular phenotype [RCV002454335]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551277] Chr6:123548497 [GRCh38]
Chr6:123869642 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-23_1598-19del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562974] Chr6:123273382..123273386 [GRCh38]
Chr6:123594527..123594531 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1219+7_1219+8del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003053420] Chr6:123377858..123377859 [GRCh38]
Chr6:123699003..123699004 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.854-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993458]|TRDN-related disorder [RCV003950974] Chr6:123464990 [GRCh38]
Chr6:123786135 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.651G>A (p.Lys217=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562275] Chr6:123503861 [GRCh38]
Chr6:123825006 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1881C>T (p.Asp627=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007053] Chr6:123255892 [GRCh38]
Chr6:123577037 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1220-19T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003088986] Chr6:123377761 [GRCh38]
Chr6:123698906 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.425-11T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107966] Chr6:123530576 [GRCh38]
Chr6:123851721 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.931+9T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003033293] Chr6:123464897 [GRCh38]
Chr6:123786042 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1410G>A (p.Leu470=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007113] Chr6:123337629 [GRCh38]
Chr6:123658774 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-20_1598-19del microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002982115] Chr6:123273382..123273383 [GRCh38]
Chr6:123594527..123594528 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1608A>G (p.Glu536=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003093789]|not provided [RCV004707791] Chr6:123273353 [GRCh38]
Chr6:123594498 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2015-7C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003110831] Chr6:123221529 [GRCh38]
Chr6:123542674 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.11:g.(?_123539746)_(123957920_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116507] Chr6:123539746..123957920 [GRCh37]
Chr6:6q22.31		 pathogenic
NC_000006.11:g.(?_123786031)_(123786148_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116508] Chr6:123786031..123786148 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123703243)_(123703312_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116509] Chr6:123703243..123703312 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123687260)_(123687347_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116511] Chr6:123687260..123687347 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123573537)_(123573600_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116512] Chr6:123573537..123573600 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123851631)_(123868537_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116513] Chr6:123851631..123868537 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123833428)_(123837371_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116514] Chr6:123833428..123837371 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123539746)_(123833527_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116515] Chr6:123539746..123833527 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123637582)_(123673751_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116516] Chr6:123637582..123673751 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123580749)_(123595835_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116517] Chr6:123580749..123595835 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123581737)_(123581803_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116518] Chr6:123581737..123581803 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123851631)_(123851730_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116519] Chr6:123851631..123851730 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123818318)_(123825066_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003116520] Chr6:123818318..123825066 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1322-9_1322-6dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003112960] Chr6:123352591..123352592 [GRCh38]
Chr6:123673736..123673737 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1624+9T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003112328] Chr6:123273328 [GRCh38]
Chr6:123594473 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1624+6T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003112329] Chr6:123273331 [GRCh38]
Chr6:123594476 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1187-15A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003121089] Chr6:123377913 [GRCh38]
Chr6:123699058 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.200T>C (p.Met67Thr) single nucleotide variant Cardiovascular phenotype [RCV003296960] Chr6:123570955 [GRCh38]
Chr6:123892100 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1594C>G (p.Pro532Ala) single nucleotide variant Cardiovascular phenotype [RCV003296961] Chr6:123274644 [GRCh38]
Chr6:123595789 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1201G>A (p.Glu401Lys) single nucleotide variant Cardiovascular phenotype [RCV003296964] Chr6:123377884 [GRCh38]
Chr6:123699029 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys) single nucleotide variant Cardiovascular phenotype [RCV003296965]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638931] Chr6:123267728 [GRCh38]
Chr6:123588873 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1273+1G>A single nucleotide variant not provided [RCV002278970] Chr6:123375604 [GRCh38]
Chr6:123696749 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2T>C (p.Met1Thr) single nucleotide variant Cardiovascular phenotype [RCV002435645]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003102962] Chr6:123636774 [GRCh38]
Chr6:123957919 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.508G>T (p.Gly170Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV002287856] Chr6:123516183 [GRCh38]
Chr6:123837328 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.339C>A (p.Ile113=) single nucleotide variant Cardiovascular phenotype [RCV002451980] Chr6:123548506 [GRCh38]
Chr6:123869651 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.551C>A (p.Ala184Glu) single nucleotide variant Cardiovascular phenotype [RCV002351760] Chr6:123512362 [GRCh38]
Chr6:123833507 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1322-1G>A single nucleotide variant Cardiovascular phenotype [RCV002385711] Chr6:123352587 [GRCh38]
Chr6:123673732 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.713A>G (p.Lys238Arg) single nucleotide variant Cardiovascular phenotype [RCV002367481] Chr6:123503799 [GRCh38]
Chr6:123824944 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1327C>T (p.Pro443Ser) single nucleotide variant Cardiovascular phenotype [RCV002385819] Chr6:123352581 [GRCh38]
Chr6:123673726 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.960G>A (p.Glu320=) single nucleotide variant Cardiovascular phenotype [RCV002385316] Chr6:123438975 [GRCh38]
Chr6:123760120 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.801T>C (p.Tyr267=) single nucleotide variant Cardiovascular phenotype [RCV002419270] Chr6:123497245 [GRCh38]
Chr6:123818390 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1321G>A (p.Ala441Thr) single nucleotide variant Cardiovascular phenotype [RCV002385701] Chr6:123366135 [GRCh38]
Chr6:123687280 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1334A>G (p.Lys445Arg) single nucleotide variant Cardiovascular phenotype [RCV002387560] Chr6:123352574 [GRCh38]
Chr6:123673719 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala) single nucleotide variant Cardiovascular phenotype [RCV002349533]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003096736] Chr6:123516149 [GRCh38]
Chr6:123837294 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1332A>C (p.Gly444=) single nucleotide variant Cardiovascular phenotype [RCV002387507] Chr6:123352576 [GRCh38]
Chr6:123673721 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1332A>G (p.Gly444=) single nucleotide variant Cardiovascular phenotype [RCV002387511] Chr6:123352576 [GRCh38]
Chr6:123673721 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1690C>T (p.Gln564Ter) single nucleotide variant Cardiovascular phenotype [RCV002414634] Chr6:123271169 [GRCh38]
Chr6:123592314 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1048A>G (p.Lys350Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV002471632] Chr6:123438066 [GRCh38]
Chr6:123759211 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer) insertion Cardiovascular phenotype [RCV002347569] Chr6:123571097..123571098 [GRCh38]
Chr6:123892242..123892243 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1882A>G (p.Met628Val) single nucleotide variant Cardiovascular phenotype [RCV002415328] Chr6:123255891 [GRCh38]
Chr6:123577036 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1598-20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003012179] Chr6:123273383 [GRCh38]
Chr6:123594528 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q22.31(chr6:121646369-124675332)x3 copy number gain not provided [RCV002473858] Chr6:121646369..124675332 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1832-4C>T single nucleotide variant Cardiovascular phenotype [RCV002412660]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003097284] Chr6:123259666 [GRCh38]
Chr6:123580811 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.252T>G (p.Ile84Met) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002750489] Chr6:123548593 [GRCh38]
Chr6:123869738 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg) single nucleotide variant Cardiovascular phenotype [RCV002405792]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003096965] Chr6:123274658 [GRCh38]
Chr6:123595803 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2130C>A (p.Asp710Glu) single nucleotide variant Cardiovascular phenotype [RCV002417767] Chr6:123218661 [GRCh38]
Chr6:123539806 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2134C>T (p.Pro712Ser) single nucleotide variant Cardiovascular phenotype [RCV002417830] Chr6:123218657 [GRCh38]
Chr6:123539802 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1279G>C (p.Glu427Gln) single nucleotide variant Cardiovascular phenotype [RCV002374313] Chr6:123366177 [GRCh38]
Chr6:123687322 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.392G>C (p.Gly131Ala) single nucleotide variant Cardiovascular phenotype [RCV002357555] Chr6:123547372 [GRCh38]
Chr6:123868517 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1099G>T (p.Ala367Ser) single nucleotide variant Cardiovascular phenotype [RCV002430730] Chr6:123393630 [GRCh38]
Chr6:123714775 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.344C>T (p.Ser115Leu) single nucleotide variant Cardiovascular phenotype [RCV002457185] Chr6:123548501 [GRCh38]
Chr6:123869646 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1894dup (p.Arg632fs) duplication Cardiovascular phenotype [RCV002408077] Chr6:123255878..123255879 [GRCh38]
Chr6:123577023..123577024 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.979A>G (p.Thr327Ala) single nucleotide variant Cardiovascular phenotype [RCV002376789] Chr6:123438956 [GRCh38]
Chr6:123760101 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1296G>T (p.Glu432Asp) single nucleotide variant Cardiovascular phenotype [RCV002380664] Chr6:123366160 [GRCh38]
Chr6:123687305 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.854-2A>T single nucleotide variant Cardiovascular phenotype [RCV002447821] Chr6:123464985 [GRCh38]
Chr6:123786130 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.877C>T (p.Pro293Ser) single nucleotide variant Cardiovascular phenotype [RCV002373649] Chr6:123464960 [GRCh38]
Chr6:123786105 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.219C>T (p.Tyr73=) single nucleotide variant Cardiovascular phenotype [RCV002425652] Chr6:123570936 [GRCh38]
Chr6:123892081 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1052-1G>C single nucleotide variant Cardiovascular phenotype [RCV002395074] Chr6:123393678 [GRCh38]
Chr6:123714823 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1512C>T (p.Gly504=) single nucleotide variant Cardiovascular phenotype [RCV002392240]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638876] Chr6:123279081 [GRCh38]
Chr6:123600226 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.68C>G (p.Ser23Cys) single nucleotide variant Cardiovascular phenotype [RCV002378048] Chr6:123571087 [GRCh38]
Chr6:123892232 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.772G>C (p.Val258Leu) single nucleotide variant Cardiovascular phenotype [RCV002400729] Chr6:123503740 [GRCh38]
Chr6:123824885 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1971A>G (p.Val657=) single nucleotide variant Cardiovascular phenotype [RCV002423496] Chr6:123252416 [GRCh38]
Chr6:123573561 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1141A>G (p.Lys381Glu) single nucleotide variant Cardiovascular phenotype [RCV002457053] Chr6:123382142 [GRCh38]
Chr6:123703287 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys) single nucleotide variant Cardiovascular phenotype [RCV002339774]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003099580] Chr6:123548490 [GRCh38]
Chr6:123869635 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.772G>T (p.Val258Leu) single nucleotide variant Cardiovascular phenotype [RCV002400731] Chr6:123503740 [GRCh38]
Chr6:123824885 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1690C>A (p.Gln564Lys) single nucleotide variant Cardiovascular phenotype [RCV002406150] Chr6:123271169 [GRCh38]
Chr6:123592314 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1794A>G (p.Lys598=) single nucleotide variant Cardiovascular phenotype [RCV002407782] Chr6:123265328 [GRCh38]
Chr6:123586473 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.691A>G (p.Lys231Glu) single nucleotide variant Cardiovascular phenotype [RCV002378097] Chr6:123503821 [GRCh38]
Chr6:123824966 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1696A>G (p.Lys566Glu) single nucleotide variant Cardiovascular phenotype [RCV002406226] Chr6:123271163 [GRCh38]
Chr6:123592308 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1628A>G (p.Gln543Arg) single nucleotide variant Cardiovascular phenotype [RCV002401191] Chr6:123273008 [GRCh38]
Chr6:123594153 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.271C>T (p.Leu91=) single nucleotide variant Cardiovascular phenotype [RCV002431260]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638896] Chr6:123548574 [GRCh38]
Chr6:123869719 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1728C>A (p.Pro576=) single nucleotide variant Cardiovascular phenotype [RCV002399144] Chr6:123269859 [GRCh38]
Chr6:123591004 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1762_1763del (p.Glu588fs) microsatellite Cardiovascular phenotype [RCV002401678] Chr6:123267727..123267728 [GRCh38]
Chr6:123588872..123588873 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1344G>C (p.Glu448Asp) single nucleotide variant Cardiovascular phenotype [RCV002387781] Chr6:123352564 [GRCh38]
Chr6:123673709 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.766G>A (p.Ala256Thr) single nucleotide variant Cardiovascular phenotype [RCV002396482] Chr6:123503746 [GRCh38]
Chr6:123824891 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2050+2_2050+16delinsATTATT indel Cardiovascular phenotype [RCV002421807] Chr6:123221471..123221485 [GRCh38]
Chr6:123542616..123542630 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1554G>A (p.Lys518=) single nucleotide variant Cardiovascular phenotype [RCV002403428] Chr6:123278331 [GRCh38]
Chr6:123599476 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.214G>T (p.Asp72Tyr) single nucleotide variant Cardiovascular phenotype [RCV002432447] Chr6:123570941 [GRCh38]
Chr6:123892086 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2150G>A (p.Gly717Asp) single nucleotide variant Cardiovascular phenotype [RCV002432463] Chr6:123218641 [GRCh38]
Chr6:123539786 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.213G>A (p.Val71=) single nucleotide variant Cardiovascular phenotype [RCV002430517]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638885] Chr6:123570942 [GRCh38]
Chr6:123892087 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1888C>T (p.His630Tyr) single nucleotide variant Cardiovascular phenotype [RCV002407967] Chr6:123255885 [GRCh38]
Chr6:123577030 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.601_610+45delinsG indel Cardiovascular phenotype [RCV002358063] Chr6:123512258..123512312 [GRCh38]
Chr6:123833403..123833457 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu) single nucleotide variant Cardiovascular phenotype [RCV002330092]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003094619] Chr6:123530563 [GRCh38]
Chr6:123851708 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.591A>G (p.Glu197=) single nucleotide variant Cardiovascular phenotype [RCV002355782]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638845] Chr6:123512322 [GRCh38]
Chr6:123833467 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1907-2A>G single nucleotide variant Cardiovascular phenotype [RCV002408359] Chr6:123255127 [GRCh38]
Chr6:123576272 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1774A>G (p.Ile592Val) single nucleotide variant Cardiovascular phenotype [RCV002407675] Chr6:123267716 [GRCh38]
Chr6:123588861 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.532_533del (p.Glu178fs) deletion Cardiovascular phenotype [RCV002346790]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638842] Chr6:123516158..123516159 [GRCh38]
Chr6:123837303..123837304 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1963G>T (p.Ala655Ser) single nucleotide variant Cardiovascular phenotype [RCV002423359] Chr6:123252424 [GRCh38]
Chr6:123573569 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs) indel Cardiovascular phenotype [RCV002440041] Chr6:123548553 [GRCh38]
Chr6:123869698 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.305G>A (p.Trp102Ter) single nucleotide variant Cardiovascular phenotype [RCV002444194] Chr6:123548540 [GRCh38]
Chr6:123869685 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1975+1G>C single nucleotide variant Cardiovascular phenotype [RCV002423558] Chr6:123252411 [GRCh38]
Chr6:123573556 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.292G>A (p.Glu98Lys) single nucleotide variant Cardiovascular phenotype [RCV002440043] Chr6:123548553 [GRCh38]
Chr6:123869698 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA indel Cardiovascular phenotype [RCV002325023]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003099352] Chr6:123382148..123382149 [GRCh38]
Chr6:123703293..123703294 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1052-5C>G single nucleotide variant Cardiovascular phenotype [RCV002403794] Chr6:123393682 [GRCh38]
Chr6:123714827 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1984G>T (p.Glu662Ter) single nucleotide variant Cardiovascular phenotype [RCV002423729] Chr6:123224123 [GRCh38]
Chr6:123545268 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.173T>A (p.Ile58Asn) single nucleotide variant Cardiovascular phenotype [RCV002401387] Chr6:123570982 [GRCh38]
Chr6:123892127 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.932-1G>C single nucleotide variant Cardiovascular phenotype [RCV002371613] Chr6:123439004 [GRCh38]
Chr6:123760149 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.116A>T (p.Asp39Val) single nucleotide variant Cardiovascular phenotype [RCV002329871] Chr6:123571039 [GRCh38]
Chr6:123892184 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2094T>C (p.Asn698=) single nucleotide variant Cardiovascular phenotype [RCV002424089] Chr6:123218697 [GRCh38]
Chr6:123539842 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.209T>C (p.Leu70Ser) single nucleotide variant Cardiovascular phenotype [RCV002424181] Chr6:123570946 [GRCh38]
Chr6:123892091 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1374T>C (p.Ile458=) single nucleotide variant Cardiovascular phenotype [RCV002383774] Chr6:123337665 [GRCh38]
Chr6:123658810 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.185C>T (p.Ala62Val) single nucleotide variant Cardiovascular phenotype [RCV002414891]|not specified [RCV003403817] Chr6:123570970 [GRCh38]
Chr6:123892115 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1457C>T (p.Ser486Phe) single nucleotide variant Cardiovascular phenotype [RCV002394732] Chr6:123331893 [GRCh38]
Chr6:123653038 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1157C>A (p.Pro386His) single nucleotide variant Cardiovascular phenotype [RCV002355537] Chr6:123382126 [GRCh38]
Chr6:123703271 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1907-3_1907-2del deletion Cardiovascular phenotype [RCV002408360] Chr6:123255127..123255128 [GRCh38]
Chr6:123576272..123576273 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser) single nucleotide variant Cardiovascular phenotype [RCV002373543]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003100016] Chr6:123464963 [GRCh38]
Chr6:123786108 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1771T>C (p.Ser591Pro) single nucleotide variant Cardiovascular phenotype [RCV002401838] Chr6:123267719 [GRCh38]
Chr6:123588864 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.749A>G (p.Lys250Arg) single nucleotide variant Cardiovascular phenotype [RCV002391587] Chr6:123503763 [GRCh38]
Chr6:123824908 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1197G>T (p.Lys399Asn) single nucleotide variant Cardiovascular phenotype [RCV002340966] Chr6:123377888 [GRCh38]
Chr6:123699033 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.537A>T (p.Lys179Asn) single nucleotide variant Cardiovascular phenotype [RCV002347097] Chr6:123516154 [GRCh38]
Chr6:123837299 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2189A>G (p.Ter730=) single nucleotide variant Cardiovascular phenotype [RCV002425524] Chr6:123218602 [GRCh38]
Chr6:123539747 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1597+3A>G single nucleotide variant Cardiovascular phenotype [RCV002398538] Chr6:123274638 [GRCh38]
Chr6:123595783 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.881T>A (p.Leu294Ter) single nucleotide variant Cardiovascular phenotype [RCV002373754] Chr6:123464956 [GRCh38]
Chr6:123786101 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.690G>A (p.Val230=) single nucleotide variant Cardiovascular phenotype [RCV002378082] Chr6:123503822 [GRCh38]
Chr6:123824967 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.366T>A (p.Asp122Glu) single nucleotide variant Cardiovascular phenotype [RCV002346666] Chr6:123548479 [GRCh38]
Chr6:123869624 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1056G>A (p.Pro352=) single nucleotide variant Cardiovascular phenotype [RCV002398951]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526184] Chr6:123393673 [GRCh38]
Chr6:123714818 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly) single nucleotide variant Cardiovascular phenotype [RCV002360254]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003098143] Chr6:123503901 [GRCh38]
Chr6:123825046 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.713AAG[1] (p.Glu239del) microsatellite Cardiovascular phenotype [RCV002378358] Chr6:123503794..123503796 [GRCh38]
Chr6:123824939..123824941 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1166-2A>C single nucleotide variant Cardiovascular phenotype [RCV002333148] Chr6:123381392 [GRCh38]
Chr6:123702537 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln) single nucleotide variant Cardiovascular phenotype [RCV002400838]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003100704] Chr6:123438072 [GRCh38]
Chr6:123759217 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.77A>G (p.Lys26Arg) single nucleotide variant Cardiovascular phenotype [RCV002409892] Chr6:123571078 [GRCh38]
Chr6:123892223 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1784-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003013359] Chr6:123265345 [GRCh38]
Chr6:123586490 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-15ATTT[2] microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002861612] Chr6:123273367..123273370 [GRCh38]
Chr6:123594512..123594515 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1369+2del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002904430] Chr6:123352537 [GRCh38]
Chr6:123673682 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1511-13dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002615986] Chr6:123279094..123279095 [GRCh38]
Chr6:123600239..123600240 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.19_22+8del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002904857] Chr6:123636746..123636757 [GRCh38]
Chr6:123957891..123957902 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1738+10G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002731435] Chr6:123269839 [GRCh38]
Chr6:123590984 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2160T>C (p.Asn720=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003014199] Chr6:123218631 [GRCh38]
Chr6:123539776 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-18_1598-14del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002970862] Chr6:123273377..123273381 [GRCh38]
Chr6:123594522..123594526 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1624+1G>A single nucleotide variant Cardiovascular phenotype [RCV003377861]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003075105] Chr6:123273336 [GRCh38]
Chr6:123594481 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_006073.4(TRDN):c.156G>T (p.Leu52=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003012026] Chr6:123570999 [GRCh38]
Chr6:123892144 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1471+10T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002795101] Chr6:123331869 [GRCh38]
Chr6:123653014 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.840G>T (p.Gly280=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003075612] Chr6:123497206 [GRCh38]
Chr6:123818351 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002995637] Chr6:123269855 [GRCh38]
Chr6:123591000 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1857A>G (p.Glu619=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002862089] Chr6:123259637 [GRCh38]
Chr6:123580782 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1274-8A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002755831] Chr6:123366190 [GRCh38]
Chr6:123687335 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1784-18T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002858083] Chr6:123265356 [GRCh38]
Chr6:123586501 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1921_1923del (p.Glu641del) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002819858] Chr6:123255109..123255111 [GRCh38]
Chr6:123576254..123576256 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1321+17G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003074451] Chr6:123366118 [GRCh38]
Chr6:123687263 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1421-19G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002880509] Chr6:123331948 [GRCh38]
Chr6:123653093 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1370-20_1370-8del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015686] Chr6:123337677..123337689 [GRCh38]
Chr6:123658822..123658834 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1187-19C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002972332] Chr6:123377917 [GRCh38]
Chr6:123699062 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.425-12A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002815578] Chr6:123530577 [GRCh38]
Chr6:123851722 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.551-19G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002862091] Chr6:123512381 [GRCh38]
Chr6:123833526 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1784-17dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002994756] Chr6:123265354..123265355 [GRCh38]
Chr6:123586499..123586500 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1052-18T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003074576] Chr6:123393695 [GRCh38]
Chr6:123714840 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1661A>G (p.His554Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002755517] Chr6:123272975 [GRCh38]
Chr6:123594120 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1370-15T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003097591] Chr6:123337684 [GRCh38]
Chr6:123658829 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1471+15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993501] Chr6:123331864 [GRCh38]
Chr6:123653009 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.432C>G (p.His144Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002615339] Chr6:123530558 [GRCh38]
Chr6:123851703 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1626A>G (p.Lys542=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002685930] Chr6:123273010 [GRCh38]
Chr6:123594155 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr) single nucleotide variant Cardiovascular phenotype [RCV003308257]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002731343] Chr6:123464972 [GRCh38]
Chr6:123786117 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.425-14C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002947344] Chr6:123530579 [GRCh38]
Chr6:123851724 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.233-11A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003075016] Chr6:123548623 [GRCh38]
Chr6:123869768 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg) single nucleotide variant Cardiovascular phenotype [RCV004676159]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002636861] Chr6:123278341 [GRCh38]
Chr6:123599486 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1537+18_1537+19insTAAA insertion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002780840] Chr6:123279037..123279038 [GRCh38]
Chr6:123600182..123600183 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1650G>A (p.Lys550=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002740195] Chr6:123272986 [GRCh38]
Chr6:123594131 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003054930] Chr6:123516203 [GRCh38]
Chr6:123837348 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys) single nucleotide variant Cardiovascular phenotype [RCV003167829]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002844039] Chr6:123548539 [GRCh38]
Chr6:123869684 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003002913] Chr6:123331879 [GRCh38]
Chr6:123653024 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1472-4C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003080206] Chr6:123316499 [GRCh38]
Chr6:123637644 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.92T>A (p.Val31Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003020461] Chr6:123571063 [GRCh38]
Chr6:123892208 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.856_890del (p.Gln286fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003035570] Chr6:123464947..123464981 [GRCh38]
Chr6:123786092..123786126 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.805T>G (p.Phe269Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003019328] Chr6:123497241 [GRCh38]
Chr6:123818386 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.779A>G (p.Lys260Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002638081] Chr6:123503733 [GRCh38]
Chr6:123824878 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002846754] Chr6:123530539 [GRCh38]
Chr6:123851684 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1278T>C (p.Thr426=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002637070] Chr6:123366178 [GRCh38]
Chr6:123687323 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.414G>A (p.Leu138=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002796380] Chr6:123547350 [GRCh38]
Chr6:123868495 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1087G>A (p.Val363Ile) single nucleotide variant Cardiovascular phenotype [RCV003167650]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002690620] Chr6:123393642 [GRCh38]
Chr6:123714787 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.143C>A (p.Ala48Glu) single nucleotide variant not provided [RCV003036969] Chr6:123571012 [GRCh38]
Chr6:123892157 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2109G>T (p.Gln703His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002638272] Chr6:123218682 [GRCh38]
Chr6:123539827 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.411C>T (p.Pro137=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003079911] Chr6:123547353 [GRCh38]
Chr6:123868498 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1471+14A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002848416] Chr6:123331865 [GRCh38]
Chr6:123653010 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1537+16G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002780841] Chr6:123279040 [GRCh38]
Chr6:123600185 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1804+6T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003081255] Chr6:123265312 [GRCh38]
Chr6:123586457 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002949667] Chr6:123503842 [GRCh38]
Chr6:123824987 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1567+16T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003080865] Chr6:123278302 [GRCh38]
Chr6:123599447 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1906+8T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002867532] Chr6:123255859 [GRCh38]
Chr6:123577004 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.391+19T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002622337] Chr6:123548435 [GRCh38]
Chr6:123869580 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-16T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002621832] Chr6:123273379 [GRCh38]
Chr6:123594524 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1246+15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002735377] Chr6:123377701 [GRCh38]
Chr6:123698846 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg) single nucleotide variant Cardiovascular phenotype [RCV004068283]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002975772]|not provided [RCV004786782] Chr6:123503853 [GRCh38]
Chr6:123824998 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1568-5C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003041865] Chr6:123274675 [GRCh38]
Chr6:123595820 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1208A>C (p.His403Pro) single nucleotide variant Cardiovascular phenotype [RCV003170699]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002958557] Chr6:123377877 [GRCh38]
Chr6:123699022 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003043175] Chr6:123279059 [GRCh38]
Chr6:123600204 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.925C>T (p.Leu309Phe) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007412] Chr6:123464912 [GRCh38]
Chr6:123786057 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.551-7G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002954444] Chr6:123512369 [GRCh38]
Chr6:123833514 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002790783] Chr6:123377733 [GRCh38]
Chr6:123698878 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002957428] Chr6:123438108 [GRCh38]
Chr6:123759253 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002985418] Chr6:123224121 [GRCh38]
Chr6:123545266 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002801007] Chr6:123571126 [GRCh38]
Chr6:123892271 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1051+8A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002828734] Chr6:123438055 [GRCh38]
Chr6:123759200 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+6G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002828735] Chr6:123438057 [GRCh38]
Chr6:123759202 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1 copy number loss not provided [RCV002509028] Chr6:119243634..126078530 [GRCh37]
Chr6:6q22.31		 not provided
NM_006073.4(TRDN):c.1805-19_1805-18insC insertion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002982245] Chr6:123260656..123260657 [GRCh38]
Chr6:123581801..123581802 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.992-15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003084188] Chr6:123438137 [GRCh38]
Chr6:123759282 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1537+18T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002805267] Chr6:123279038 [GRCh38]
Chr6:123600183 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.920C>T (p.Pro307Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002663788] Chr6:123464917 [GRCh38]
Chr6:123786062 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1488del (p.Asp497fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002918311] Chr6:123316479 [GRCh38]
Chr6:123637624 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1051+10_1051+11insTGTT insertion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002828732] Chr6:123438052..123438053 [GRCh38]
Chr6:123759197..123759198 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+9C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002828733] Chr6:123438054 [GRCh38]
Chr6:123759199 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1247-19T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002800779] Chr6:123375650 [GRCh38]
Chr6:123696795 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002958694] Chr6:123512326 [GRCh38]
Chr6:123833471 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1625-3C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003083881] Chr6:123273014 [GRCh38]
Chr6:123594159 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.585A>G (p.Lys195=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002643827] Chr6:123512328 [GRCh38]
Chr6:123833473 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1832-11C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003085229] Chr6:123259673 [GRCh38]
Chr6:123580818 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.795T>A (p.Asp265Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003006315] Chr6:123497251 [GRCh38]
Chr6:123818396 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.945A>G (p.Glu315=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002894295] Chr6:123438990 [GRCh38]
Chr6:123760135 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1511-20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002918886] Chr6:123279102 [GRCh38]
Chr6:123600247 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.812G>C (p.Arg271Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002918330] Chr6:123497234 [GRCh38]
Chr6:123818379 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1369+11A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002966903] Chr6:123352528 [GRCh38]
Chr6:123673673 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1538-12C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003065245] Chr6:123278359 [GRCh38]
Chr6:123599504 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1247-20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002651324] Chr6:123375651 [GRCh38]
Chr6:123696796 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003030644] Chr6:123548549 [GRCh38]
Chr6:123869694 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1951+9G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003048373] Chr6:123255072 [GRCh38]
Chr6:123576217 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1321+9A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003009870] Chr6:123366126 [GRCh38]
Chr6:123687271 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.424+13C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002942031] Chr6:123547327 [GRCh38]
Chr6:123868472 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1362G>A (p.Val454=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002720644] Chr6:123352546 [GRCh38]
Chr6:123673691 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1209T>C (p.His403=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002632211] Chr6:123377876 [GRCh38]
Chr6:123699021 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.876T>A (p.Pro292=) single nucleotide variant Cardiovascular phenotype [RCV003167852]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002898597] Chr6:123464961 [GRCh38]
Chr6:123786106 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002966744] Chr6:123218668 [GRCh38]
Chr6:123539813 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1831+9T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002581912] Chr6:123260603 [GRCh38]
Chr6:123581748 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1321+11C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002630798] Chr6:123366124 [GRCh38]
Chr6:123687269 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1220-19del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002602106] Chr6:123377761 [GRCh38]
Chr6:123698906 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.829T>G (p.Phe277Val) single nucleotide variant Cardiovascular phenotype [RCV004681558]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002895306] Chr6:123497217 [GRCh38]
Chr6:123818362 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1321+1G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002963039] Chr6:123366134 [GRCh38]
Chr6:123687279 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1907-6T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003086618] Chr6:123255131 [GRCh38]
Chr6:123576276 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1706C>T (p.Thr569Ile) single nucleotide variant Cardiovascular phenotype [RCV004123026] Chr6:123271153 [GRCh38]
Chr6:123592298 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1420+17A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003045698] Chr6:123337602 [GRCh38]
Chr6:123658747 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.425-11T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002857559] Chr6:123530576 [GRCh38]
Chr6:123851721 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1568-14T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003009397] Chr6:123274684 [GRCh38]
Chr6:123595829 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.853+10G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002578608] Chr6:123497183 [GRCh38]
Chr6:123818328 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.156G>C (p.Leu52=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003062366] Chr6:123570999 [GRCh38]
Chr6:123892144 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.744del (p.Glu249fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003089254] Chr6:123503768 [GRCh38]
Chr6:123824913 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1321+17G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002628993]|not specified [RCV004801290] Chr6:123366118 [GRCh38]
Chr6:123687263 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1672+6T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002716041]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003741322] Chr6:123272958 [GRCh38]
Chr6:123594103 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_006073.4(TRDN):c.1052-15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002899752] Chr6:123393692 [GRCh38]
Chr6:123714837 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1136-2A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002716950] Chr6:123382149 [GRCh38]
Chr6:123703294 [GRCh37]
Chr6:6q22.31		 likely pathogenic|no classifications from unflagged records
NM_006073.4(TRDN):c.1738+12A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002649336] Chr6:123269837 [GRCh38]
Chr6:123590982 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.842A>T (p.Asp281Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003088214] Chr6:123497204 [GRCh38]
Chr6:123818349 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003088478] Chr6:123259633 [GRCh38]
Chr6:123580778 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1247-8A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003064296] Chr6:123375639 [GRCh38]
Chr6:123696784 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1511-11C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002746513] Chr6:123279093 [GRCh38]
Chr6:123600238 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002600162] Chr6:123516171..123516176 [GRCh38]
Chr6:123837316..123837321 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1568-15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002988455] Chr6:123274685 [GRCh38]
Chr6:123595830 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003027164] Chr6:123571093 [GRCh38]
Chr6:123892238 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1721-6C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061869] Chr6:123269872 [GRCh38]
Chr6:123591017 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.211G>A (p.Val71Met) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003090223] Chr6:123570944 [GRCh38]
Chr6:123892089 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1720+9G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002806375] Chr6:123271130 [GRCh38]
Chr6:123592275 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1405A>G (p.Ile469Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002599901] Chr6:123337634 [GRCh38]
Chr6:123658779 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003009011] Chr6:123218641..123218642 [GRCh38]
Chr6:123539786..123539787 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.245C>T (p.Ala82Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003009048] Chr6:123548600 [GRCh38]
Chr6:123869745 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1273+5G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003090620] Chr6:123375600 [GRCh38]
Chr6:123696745 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003086823] Chr6:123548568 [GRCh38]
Chr6:123869713 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1597+15A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003008492] Chr6:123274626 [GRCh38]
Chr6:123595771 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1916_1918del (p.Arg639del) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002670731] Chr6:123255114..123255116 [GRCh38]
Chr6:123576259..123576261 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg) single nucleotide variant Cardiovascular phenotype [RCV004073161]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003091683] Chr6:123218611 [GRCh38]
Chr6:123539756 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1805-6dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002647975] Chr6:123260643..123260644 [GRCh38]
Chr6:123581788..123581789 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003048039] Chr6:123218606 [GRCh38]
Chr6:123539751 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2037C>T (p.Pro679=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002576491] Chr6:123221500 [GRCh38]
Chr6:123542645 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1426A>G (p.Ile476Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002676852] Chr6:123331924 [GRCh38]
Chr6:123653069 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1692G>A (p.Gln564=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002634084] Chr6:123271167 [GRCh38]
Chr6:123592312 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1510+1G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003032258] Chr6:123316456 [GRCh38]
Chr6:123637601 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1598-4_1598-3insTTTAT microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003050518] Chr6:123273366..123273367 [GRCh38]
Chr6:123594511..123594512 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.484+10T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003067327] Chr6:123530496 [GRCh38]
Chr6:123851641 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1218A>T (p.Pro406=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002604690] Chr6:123377867 [GRCh38]
Chr6:123699012 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1672+3A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002654419] Chr6:123272961 [GRCh38]
Chr6:123594106 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1623C>T (p.His541=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003093697] Chr6:123273338 [GRCh38]
Chr6:123594483 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.525A>G (p.Arg175=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002676809] Chr6:123516166 [GRCh38]
Chr6:123837311 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1186+13A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002588957] Chr6:123381357 [GRCh38]
Chr6:123702502 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1625-11A>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002725420] Chr6:123273022 [GRCh38]
Chr6:123594167 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.579A>G (p.Lys193=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002606760] Chr6:123512334 [GRCh38]
Chr6:123833479 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1233G>A (p.Lys411=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002654999] Chr6:123377729 [GRCh38]
Chr6:123698874 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1248T>C (p.Val416=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002588225] Chr6:123375630 [GRCh38]
Chr6:123696775 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1975+14G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003049526] Chr6:123252398 [GRCh38]
Chr6:123573543 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.550+1_550+2insA insertion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003067428] Chr6:123516139..123516140 [GRCh38]
Chr6:123837284..123837285 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1510+14G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002607223] Chr6:123316443 [GRCh38]
Chr6:123637588 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.157G>A (p.Val53Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002583562] Chr6:123570998 [GRCh38]
Chr6:123892143 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.119T>C (p.Ile40Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002611225] Chr6:123571036 [GRCh38]
Chr6:123892181 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.24A>G (p.Gly8=) single nucleotide variant Cardiovascular phenotype [RCV004681511]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002635188] Chr6:123571131 [GRCh38]
Chr6:123892276 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1538-17T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003068260] Chr6:123278364 [GRCh38]
Chr6:123599509 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.947A>T (p.Lys316Met) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002584070] Chr6:123438988 [GRCh38]
Chr6:123760133 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1537+17C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003050394] Chr6:123279039 [GRCh38]
Chr6:123600184 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.963G>A (p.Lys321=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003072371] Chr6:123438972 [GRCh38]
Chr6:123760117 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1431A>G (p.Lys477=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002612103] Chr6:123331919 [GRCh38]
Chr6:123653064 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1804+10C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070712] Chr6:123265308 [GRCh38]
Chr6:123586453 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1220-17T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003067525] Chr6:123377759 [GRCh38]
Chr6:123698904 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.35C>G (p.Thr12Arg) single nucleotide variant Cardiovascular phenotype [RCV003296966] Chr6:123571120 [GRCh38]
Chr6:123892265 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.207T>C (p.Asp69=) single nucleotide variant Cardiovascular phenotype [RCV003296967] Chr6:123570948 [GRCh38]
Chr6:123892093 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.52G>A (p.Asp18Asn) single nucleotide variant Cardiovascular phenotype [RCV003296968] Chr6:123571103 [GRCh38]
Chr6:123892248 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.991G>T (p.Glu331Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV004797442] Chr6:123438944 [GRCh38]
Chr6:123760089 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.2002A>C (p.Lys668Gln) single nucleotide variant Cardiovascular phenotype [RCV004281080] Chr6:123224105 [GRCh38]
Chr6:123545250 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1084A>G (p.Thr362Ala) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003224751] Chr6:123393645 [GRCh38]
Chr6:123714790 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.424+1G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003132939] Chr6:123547339 [GRCh38]
Chr6:123868484 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 5 [RCV003132940] Chr6:123278327 [GRCh38]
Chr6:123599472 [GRCh37]
Chr6:6q22.31		 likely pathogenic|no classifications from unflagged records
NM_006073.4(TRDN):c.2154A>C (p.Gln718His) single nucleotide variant Cardiovascular phenotype [RCV003176722] Chr6:123218637 [GRCh38]
Chr6:123539782 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1805-6_1805-4delinsTTT indel Cardiovascular phenotype [RCV003176723] Chr6:123260642..123260644 [GRCh38]
Chr6:123581787..123581789 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.912G>A (p.Pro304=) single nucleotide variant Cardiovascular phenotype [RCV003176724] Chr6:123464925 [GRCh38]
Chr6:123786070 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.386A>T (p.Asp129Val) single nucleotide variant Cardiovascular phenotype [RCV003176725] Chr6:123548459 [GRCh38]
Chr6:123869604 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1584dup (p.Glu529fs) duplication Cardiovascular phenotype [RCV003176726] Chr6:123274653..123274654 [GRCh38]
Chr6:123595798..123595799 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2183G>T (p.Gly728Val) single nucleotide variant Cardiovascular phenotype [RCV003176727] Chr6:123218608 [GRCh38]
Chr6:123539753 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.782A>G (p.His261Arg) single nucleotide variant Cardiovascular phenotype [RCV003176728] Chr6:123503730 [GRCh38]
Chr6:123824875 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.461C>T (p.Pro154Leu) single nucleotide variant Cardiovascular phenotype [RCV003176729] Chr6:123530529 [GRCh38]
Chr6:123851674 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1474C>T (p.Pro492Ser) single nucleotide variant Cardiovascular phenotype [RCV003168118] Chr6:123316493 [GRCh38]
Chr6:123637638 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.157G>C (p.Val53Leu) single nucleotide variant Cardiovascular phenotype [RCV003168119] Chr6:123570998 [GRCh38]
Chr6:123892143 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.545A>G (p.Lys182Arg) single nucleotide variant not provided [RCV003321359] Chr6:123516146 [GRCh38]
Chr6:123837291 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184) copy number loss 6q terminal deletion syndrome [RCV003319582] Chr6:112713854..124105184 [GRCh37]
Chr6:6q21-22.31		 likely pathogenic
NM_006073.4(TRDN):c.1395G>A (p.Lys465=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638938]|not provided [RCV003327267] Chr6:123337644 [GRCh38]
Chr6:123658789 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 copy number loss Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] Chr6:113857248..130442177 [GRCh38]
Chr6:6q21-23.1		 pathogenic
NM_006073.4(TRDN):c.478A>T (p.Thr160Ser) single nucleotide variant Cardiovascular phenotype [RCV003380027] Chr6:123530512 [GRCh38]
Chr6:123851657 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.120A>G (p.Ile40Met) single nucleotide variant Cardiovascular phenotype [RCV003380025] Chr6:123571035 [GRCh38]
Chr6:123892180 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.464A>G (p.Glu155Gly) single nucleotide variant Cardiovascular phenotype [RCV003380026] Chr6:123530526 [GRCh38]
Chr6:123851671 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1017T>C (p.Ser339=) single nucleotide variant Cardiovascular phenotype [RCV003380023] Chr6:123438097 [GRCh38]
Chr6:123759242 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.153T>C (p.Leu51=) single nucleotide variant Cardiovascular phenotype [RCV003380024] Chr6:123571002 [GRCh38]
Chr6:123892147 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1821del (p.Thr608fs) deletion Cardiovascular phenotype [RCV003380028] Chr6:123260622 [GRCh38]
Chr6:123581767 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1798A>G (p.Thr600Ala) single nucleotide variant Cardiovascular phenotype [RCV003380029] Chr6:123265324 [GRCh38]
Chr6:123586469 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.70G>A (p.Val24Met) single nucleotide variant Cardiovascular phenotype [RCV003384972] Chr6:123571085 [GRCh38]
Chr6:123892230 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1583A>G (p.Lys528Arg) single nucleotide variant Cardiovascular phenotype [RCV004360139] Chr6:123274655 [GRCh38]
Chr6:123595800 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.484+1189G>A single nucleotide variant TRDN-related disorder [RCV003419147] Chr6:123529317 [GRCh38]
Chr6:123850462 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1739-15G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003873142] Chr6:123267766 [GRCh38]
Chr6:123588911 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q22.31(chr6:123554219-125882578)x1 copy number loss not provided [RCV003482931] Chr6:123554219..125882578 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 copy number loss not provided [RCV003482930] Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3		 pathogenic
NM_006073.4(TRDN):c.502del (p.Glu168fs) deletion not provided [RCV003481717] Chr6:123516189 [GRCh38]
Chr6:123837334 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1098A>G (p.Ala366=) single nucleotide variant not provided [RCV004810031] Chr6:123393631 [GRCh38]
Chr6:123714776 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1542A>G (p.Leu514=) single nucleotide variant not provided [RCV003428941] Chr6:123278343 [GRCh38]
Chr6:123599488 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.326del (p.Leu109fs) deletion TRDN-related disorder [RCV003392838] Chr6:123548519 [GRCh38]
Chr6:123869664 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1907-29_1907-15del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527310] Chr6:123255140..123255154 [GRCh38]
Chr6:123576285..123576299 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1220-12T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527359] Chr6:123377754 [GRCh38]
Chr6:123698899 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526420] Chr6:123547340 [GRCh38]
Chr6:123868485 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1220-20_1220-19del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526597] Chr6:123377761..123377762 [GRCh38]
Chr6:123698906..123698907 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1805-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526839] Chr6:123260645 [GRCh38]
Chr6:123581790 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2050+18T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526840] Chr6:123221469 [GRCh38]
Chr6:123542614 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1187-13T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525506] Chr6:123377911 [GRCh38]
Chr6:123699056 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.159C>A (p.Val53=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527134] Chr6:123570996 [GRCh38]
Chr6:123892141 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525688] Chr6:123503800 [GRCh38]
Chr6:123824945 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.22+19G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527206] Chr6:123636735 [GRCh38]
Chr6:123957880 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.991+19A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525682] Chr6:123438925 [GRCh38]
Chr6:123760070 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.611-1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527069] Chr6:123503902 [GRCh38]
Chr6:123825047 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.483del (p.Val162fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527145] Chr6:123530507 [GRCh38]
Chr6:123851652 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1870+19G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527162] Chr6:123259605 [GRCh38]
Chr6:123580750 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1871-6A>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527067] Chr6:123255908 [GRCh38]
Chr6:123577053 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.87A>T (p.Gly29=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003881939] Chr6:123571068 [GRCh38]
Chr6:123892213 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.832G>C (p.Val278Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526935] Chr6:123497214 [GRCh38]
Chr6:123818359 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.425-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525473] Chr6:123530572 [GRCh38]
Chr6:123851717 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2014+9G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527032] Chr6:123224084 [GRCh38]
Chr6:123545229 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.232+2T>C single nucleotide variant Cardiovascular phenotype [RCV004369325]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527371] Chr6:123570921 [GRCh38]
Chr6:123892066 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_006073.4(TRDN):c.232+11T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526501] Chr6:123570912 [GRCh38]
Chr6:123892057 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.794-12C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527304] Chr6:123497264 [GRCh38]
Chr6:123818409 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.485-19T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527221] Chr6:123516225 [GRCh38]
Chr6:123837370 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1273+16T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526647] Chr6:123375589 [GRCh38]
Chr6:123696734 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1738+20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526786] Chr6:123269829 [GRCh38]
Chr6:123590974 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.901A>C (p.Arg301=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527245] Chr6:123464936 [GRCh38]
Chr6:123786081 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.551-7G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527307] Chr6:123512369 [GRCh38]
Chr6:123833514 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2169A>G (p.Gly723=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527395] Chr6:123218622 [GRCh38]
Chr6:123539767 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+7C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527016] Chr6:123438056 [GRCh38]
Chr6:123759201 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1832-5C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527041] Chr6:123259667 [GRCh38]
Chr6:123580812 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1805-4A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527523] Chr6:123260642 [GRCh38]
Chr6:123581787 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1420+18A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526311] Chr6:123337601 [GRCh38]
Chr6:123658746 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1784-7T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527073] Chr6:123265345 [GRCh38]
Chr6:123586490 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1721-16C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003527109] Chr6:123269882 [GRCh38]
Chr6:123591027 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2051-13C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003876995] Chr6:123218753 [GRCh38]
Chr6:123539898 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1907-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003526620] Chr6:123255132 [GRCh38]
Chr6:123576277 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1845T>C (p.Thr615=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525613] Chr6:123259649 [GRCh38]
Chr6:123580794 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.610+11A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003525655] Chr6:123512292 [GRCh38]
Chr6:123833437 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1831+9T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003833621] Chr6:123260603 [GRCh38]
Chr6:123581748 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1717dup (p.Thr573fs) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003854526]|not provided [RCV004787067] Chr6:123271141..123271142 [GRCh38]
Chr6:123592286..123592287 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.507dup (p.Gly170fs) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003840004] Chr6:123516183..123516184 [GRCh38]
Chr6:123837328..123837329 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.854-13C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003839876] Chr6:123464996 [GRCh38]
Chr6:123786141 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.432C>T (p.His144=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003837559] Chr6:123530558 [GRCh38]
Chr6:123851703 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1503C>T (p.Ser501=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003815035] Chr6:123316464 [GRCh38]
Chr6:123637609 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1370-19C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003837797] Chr6:123337688 [GRCh38]
Chr6:123658833 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.424+14A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003836288] Chr6:123547326 [GRCh38]
Chr6:123868471 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.138C>T (p.Ser46=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639235] Chr6:123571017 [GRCh38]
Chr6:123892162 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-20C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639246] Chr6:123388571 [GRCh38]
Chr6:123709716 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1052-10dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639252] Chr6:123393686..123393687 [GRCh38]
Chr6:123714831..123714832 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1632C>T (p.Asp544=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003640112] Chr6:123273004 [GRCh38]
Chr6:123594149 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.542A>T (p.Glu181Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638486] Chr6:123516149 [GRCh38]
Chr6:123837294 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.485-20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003640223] Chr6:123516226 [GRCh38]
Chr6:123837371 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1938C>T (p.His646=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638123] Chr6:123255094 [GRCh38]
Chr6:123576239 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2051-12T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638215] Chr6:123218752 [GRCh38]
Chr6:123539897 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.794-10A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639504] Chr6:123497262 [GRCh38]
Chr6:123818407 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1421-14A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638315] Chr6:123331943 [GRCh38]
Chr6:123653088 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.794-8T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639968] Chr6:123497260 [GRCh38]
Chr6:123818405 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.854-10C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639062] Chr6:123464993 [GRCh38]
Chr6:123786138 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1673-10C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638119] Chr6:123271196 [GRCh38]
Chr6:123592341 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.391+13T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003844245] Chr6:123548441 [GRCh38]
Chr6:123869586 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1871-20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638500] Chr6:123255922 [GRCh38]
Chr6:123577067 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.312T>C (p.Tyr104=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639843] Chr6:123548533 [GRCh38]
Chr6:123869678 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.630T>C (p.Thr210=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003640235] Chr6:123503882 [GRCh38]
Chr6:123825027 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1672+13T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639388] Chr6:123272951 [GRCh38]
Chr6:123594096 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.12:g.123503896TCTGT[1] microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639368] Chr6:123503895..123503899 [GRCh38]
Chr6:123825040..123825044 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_006073.4(TRDN):c.1420+18A>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003640274] Chr6:123337601 [GRCh38]
Chr6:123658746 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1783+8A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638996] Chr6:123267699 [GRCh38]
Chr6:123588844 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1906+17A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639667] Chr6:123255850 [GRCh38]
Chr6:123576995 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-16T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639775] Chr6:123273379 [GRCh38]
Chr6:123594524 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1105+13del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639776] Chr6:123393611 [GRCh38]
Chr6:123714756 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1186+12C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639837] Chr6:123381358 [GRCh38]
Chr6:123702503 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
NM_006073.4(TRDN):c.1420+17A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003856911] Chr6:123337602 [GRCh38]
Chr6:123658747 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1989T>C (p.Asp663=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639053] Chr6:123224118 [GRCh38]
Chr6:123545263 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1560G>A (p.Glu520=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003869594] Chr6:123278325 [GRCh38]
Chr6:123599470 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1421-16C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639195] Chr6:123331945 [GRCh38]
Chr6:123653090 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1568-16C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639478] Chr6:123274686 [GRCh38]
Chr6:123595831 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1976-11C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639591] Chr6:123224142 [GRCh38]
Chr6:123545287 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.334del (p.Asp112fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639808] Chr6:123548511 [GRCh38]
Chr6:123869656 [GRCh37]
Chr6:6q22.31		 pathogenic
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 copy number gain not specified [RCV003986625] Chr6:110546061..131896074 [GRCh37]
Chr6:6q21-23.2		 likely pathogenic
NM_006073.4(TRDN):c.1568-20del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003640257] Chr6:123274690 [GRCh38]
Chr6:123595835 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1511-9T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003821968] Chr6:123279091 [GRCh38]
Chr6:123600236 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1739-17T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003870885] Chr6:123267768 [GRCh38]
Chr6:123588913 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1804+8T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638567] Chr6:123265310 [GRCh38]
Chr6:123586455 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1052-18T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639211] Chr6:123393695 [GRCh38]
Chr6:123714840 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1471+1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639185]|Catecholaminergic polymorphic ventricular tachycardia 5 [RCV004546808] Chr6:123331878 [GRCh38]
Chr6:123653023 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1135+17dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639445] Chr6:123388504..123388505 [GRCh38]
Chr6:123709649..123709650 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.1870+19G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639802] Chr6:123259605 [GRCh38]
Chr6:123580750 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.854-4G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638551] Chr6:123464987 [GRCh38]
Chr6:123786132 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1584A>G (p.Lys528=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639801] Chr6:123274654 [GRCh38]
Chr6:123595799 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1471+8_1471+10del microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638570] Chr6:123331869..123331871 [GRCh38]
Chr6:123653014..123653016 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1739-16T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639980] Chr6:123267767 [GRCh38]
Chr6:123588912 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1624+20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639983] Chr6:123273317 [GRCh38]
Chr6:123594462 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1975+7A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639244] Chr6:123252405 [GRCh38]
Chr6:123573550 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1051+18T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639267] Chr6:123438045 [GRCh38]
Chr6:123759190 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2051-5C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639106] Chr6:123218745 [GRCh38]
Chr6:123539890 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1907-16T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639313] Chr6:123255141 [GRCh38]
Chr6:123576286 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1369+15A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639467] Chr6:123352524 [GRCh38]
Chr6:123673669 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1568-18G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639135] Chr6:123274688 [GRCh38]
Chr6:123595833 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1832-5C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639714] Chr6:123259667 [GRCh38]
Chr6:123580812 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1597+11C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639598] Chr6:123274630 [GRCh38]
Chr6:123595775 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1567+19_1567+20del microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639602] Chr6:123278298..123278299 [GRCh38]
Chr6:123599443..123599444 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1321+10G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638145] Chr6:123366125 [GRCh38]
Chr6:123687270 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1598-12T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639413] Chr6:123273375 [GRCh38]
Chr6:123594520 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1784-9C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003639415] Chr6:123265347 [GRCh38]
Chr6:123586492 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2121T>A (p.Thr707=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638207] Chr6:123218670 [GRCh38]
Chr6:123539815 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1907-3C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638142] Chr6:123255128 [GRCh38]
Chr6:123576273 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1568-17C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638171] Chr6:123274687 [GRCh38]
Chr6:123595832 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1106-5T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638288] Chr6:123388556 [GRCh38]
Chr6:123709701 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1887G>A (p.Lys629=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638275] Chr6:123255886 [GRCh38]
Chr6:123577031 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638317] Chr6:123218701 [GRCh38]
Chr6:123539846 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1370-2A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003638327] Chr6:123337671 [GRCh38]
Chr6:123658816 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.484+1229T>C single nucleotide variant TRDN-related disorder [RCV003969367] Chr6:123529277 [GRCh38]
Chr6:123850422 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1805-6del deletion TRDN-related disorder [RCV003921617] Chr6:123260644 [GRCh38]
Chr6:123581789 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1952-8C>G single nucleotide variant TRDN-related disorder [RCV003913965] Chr6:123252443 [GRCh38]
Chr6:123573588 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.793+29A>T single nucleotide variant TRDN-related disorder [RCV003974295] Chr6:123503690 [GRCh38]
Chr6:123824835 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1054C>T (p.Pro352Ser) single nucleotide variant Cardiovascular phenotype [RCV004523876] Chr6:123393675 [GRCh38]
Chr6:123714820 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1086T>A (p.Thr362=) single nucleotide variant Cardiovascular phenotype [RCV004523877] Chr6:123393643 [GRCh38]
Chr6:123714788 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.111A>G (p.Thr37=) single nucleotide variant Cardiovascular phenotype [RCV004523878] Chr6:123571044 [GRCh38]
Chr6:123892189 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1186A>G (p.Lys396Glu) single nucleotide variant Cardiovascular phenotype [RCV004523879] Chr6:123381370 [GRCh38]
Chr6:123702515 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1190A>G (p.Gln397Arg) single nucleotide variant Cardiovascular phenotype [RCV004523880] Chr6:123377895 [GRCh38]
Chr6:123699040 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1425T>C (p.Pro475=) single nucleotide variant Cardiovascular phenotype [RCV004523881] Chr6:123331925 [GRCh38]
Chr6:123653070 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.14C>T (p.Thr5Ile) single nucleotide variant Cardiovascular phenotype [RCV004523882] Chr6:123636762 [GRCh38]
Chr6:123957907 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1519G>A (p.Val507Ile) single nucleotide variant Cardiovascular phenotype [RCV004523883] Chr6:123279074 [GRCh38]
Chr6:123600219 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1601T>C (p.Ile534Thr) single nucleotide variant Cardiovascular phenotype [RCV004523884] Chr6:123273360 [GRCh38]
Chr6:123594505 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1633A>G (p.Ile545Val) single nucleotide variant Cardiovascular phenotype [RCV004523885] Chr6:123273003 [GRCh38]
Chr6:123594148 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1682T>C (p.Val561Ala) single nucleotide variant Cardiovascular phenotype [RCV004523886] Chr6:123271177 [GRCh38]
Chr6:123592322 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1711G>A (p.Glu571Lys) single nucleotide variant Cardiovascular phenotype [RCV004523887] Chr6:123271148 [GRCh38]
Chr6:123592293 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1716A>G (p.Lys572=) single nucleotide variant Cardiovascular phenotype [RCV004523888] Chr6:123271143 [GRCh38]
Chr6:123592288 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1822A>C (p.Thr608Pro) single nucleotide variant Cardiovascular phenotype [RCV004523889] Chr6:123260621 [GRCh38]
Chr6:123581766 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1864A>T (p.Ser622Cys) single nucleotide variant Cardiovascular phenotype [RCV004523890] Chr6:123259630 [GRCh38]
Chr6:123580775 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1917A>G (p.Arg639=) single nucleotide variant Cardiovascular phenotype [RCV004523891] Chr6:123255115 [GRCh38]
Chr6:123576260 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.195C>T (p.Ile65=) single nucleotide variant Cardiovascular phenotype [RCV004523892] Chr6:123570960 [GRCh38]
Chr6:123892105 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1993C>A (p.Pro665Thr) single nucleotide variant Cardiovascular phenotype [RCV004523893] Chr6:123224114 [GRCh38]
Chr6:123545259 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2089T>G (p.Tyr697Asp) single nucleotide variant Cardiovascular phenotype [RCV004523894] Chr6:123218702 [GRCh38]
Chr6:123539847 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.2133C>T (p.Arg711=) single nucleotide variant Cardiovascular phenotype [RCV004523895] Chr6:123218658 [GRCh38]
Chr6:123539803 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.2188T>C (p.Ter730Gln) single nucleotide variant Cardiovascular phenotype [RCV004523896] Chr6:123218603 [GRCh38]
Chr6:123539748 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.22G>C (p.Gly8Arg) single nucleotide variant Cardiovascular phenotype [RCV004523897] Chr6:123636754 [GRCh38]
Chr6:123957899 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.286A>G (p.Met96Val) single nucleotide variant Cardiovascular phenotype [RCV004523898] Chr6:123548559 [GRCh38]
Chr6:123869704 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.763A>G (p.Lys255Glu) single nucleotide variant Cardiovascular phenotype [RCV004523899] Chr6:123503749 [GRCh38]
Chr6:123824894 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.793+1G>A single nucleotide variant Cardiovascular phenotype [RCV004523900] Chr6:123503718 [GRCh38]
Chr6:123824863 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.817A>G (p.Met273Val) single nucleotide variant Cardiovascular phenotype [RCV004523901] Chr6:123497229 [GRCh38]
Chr6:123818374 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.955G>C (p.Ala319Pro) single nucleotide variant Cardiovascular phenotype [RCV004523902] Chr6:123438980 [GRCh38]
Chr6:123760125 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1063del (p.Ala355fs) deletion Catecholaminergic polymorphic ventricular tachycardia [RCV004018175] Chr6:123393666 [GRCh38]
Chr6:123714811 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1668A>G (p.Lys556=) single nucleotide variant Cardiovascular phenotype [RCV004018511] Chr6:123272968 [GRCh38]
Chr6:123594113 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.993A>C (p.Glu331Asp) single nucleotide variant Cardiovascular phenotype [RCV004473490] Chr6:123438121 [GRCh38]
Chr6:123759266 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.244G>T (p.Ala82Ser) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558021] Chr6:123548601 [GRCh38]
Chr6:123869746 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1 copy number loss not provided [RCV004577478] Chr6:109324789..124836619 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NM_006073.4(TRDN):c.1489G>A (p.Asp497Asn) single nucleotide variant Cardiovascular phenotype [RCV004473486] Chr6:123316478 [GRCh38]
Chr6:123637623 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1931A>C (p.Gln644Pro) single nucleotide variant Cardiovascular phenotype [RCV004473487] Chr6:123255101 [GRCh38]
Chr6:123576246 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.503A>G (p.Glu168Gly) single nucleotide variant Cardiovascular phenotype [RCV004473488] Chr6:123516188 [GRCh38]
Chr6:123837333 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.663A>G (p.Glu221=) single nucleotide variant Cardiovascular phenotype [RCV004677551] Chr6:123503849 [GRCh38]
Chr6:123824994 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.11:g.(?_123759188)_(123957920_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV004578634] Chr6:123759188..123957920 [GRCh37]
Chr6:6q22.31		 pathogenic
NC_000006.11:g.(?_123892048)_(123957920_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV004578635] Chr6:123892048..123957920 [GRCh37]
Chr6:6q22.31		 pathogenic
NC_000006.11:g.(?_123836792)_(123837316_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV004578637] Chr6:123836792..123837316 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_006073.4(TRDN):c.1106C>T (p.Ala369Val) single nucleotide variant Cardiovascular phenotype [RCV004677553] Chr6:123388551 [GRCh38]
Chr6:123709696 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1805-7del deletion not specified [RCV004586236] Chr6:123260645 [GRCh38]
Chr6:123581790 [GRCh37]
Chr6:6q22.31		 benign
NM_006073.4(TRDN):c.485-2A>G single nucleotide variant not provided [RCV004698188] Chr6:123516208 [GRCh38]
Chr6:123837353 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_123957879)_(123957920_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV004578633] Chr6:123957879..123957920 [GRCh37]
Chr6:6q22.31		 pathogenic
NC_000006.11:g.(?_123653004)_(123658834_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV004578636] Chr6:123653004..123658834 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.405G>A (p.Glu135=) single nucleotide variant Cardiovascular phenotype [RCV004677544] Chr6:123547359 [GRCh38]
Chr6:123868504 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.602T>C (p.Leu201Pro) single nucleotide variant Cardiovascular phenotype [RCV004677547] Chr6:123512311 [GRCh38]
Chr6:123833456 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1364A>G (p.Glu455Gly) single nucleotide variant Cardiovascular phenotype [RCV004677548] Chr6:123352544 [GRCh38]
Chr6:123673689 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.1779A>G (p.Lys593=) single nucleotide variant Cardiovascular phenotype [RCV004677549] Chr6:123267711 [GRCh38]
Chr6:123588856 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1460T>G (p.Leu487Arg) single nucleotide variant Cardiovascular phenotype [RCV004677550] Chr6:123331890 [GRCh38]
Chr6:123653035 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_006073.4(TRDN):c.793+78T>C single nucleotide variant TRDN-related disorder [RCV004756711] Chr6:123503641 [GRCh38]
Chr6:123824786 [GRCh37]
Chr6:6q22.31		 likely benign
NM_006073.4(TRDN):c.1553del (p.Lys518fs) deletion Catecholaminergic polymorphic ventricular tachycardia 5 [RCV004797279] Chr6:123278332 [GRCh38]
Chr6:123599477 [GRCh37]
Chr6:6q22.31		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2894
Count of miRNA genes:758
Interacting mature miRNAs:855
Transcripts:ENST00000334268, ENST00000359698, ENST00000361029, ENST00000398178, ENST00000422596, ENST00000542443, ENST00000546248
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407028163GWAS677139_Hcocaine use disorder, social environment measurement QTL GWAS677139 (human)0.000002response to cocaine trait (VT:0010718)6123496923123496924Human
597202129GWAS1298203_Hbone density QTL GWAS1298203 (human)3e-15bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)6123298534123298535Human
597296656GWAS1392730_Hblood chromium measurement QTL GWAS1392730 (human)0.000003blood chromium measurement6123343896123343897Human
597155546GWAS1251620_Htriglyceride measurement, diet measurement QTL GWAS1251620 (human)0.000006triglyceride measurement, diet measurementfood intake measurement (CMO:0000772)6123592087123592088Human
597390804GWAS1486878_Hcerebral amyloid deposition measurement QTL GWAS1486878 (human)0.0000006cerebral cortex integrity trait (VT:0010923)6123419858123419859Human
597512015GWAS1608089_Hbody mass index QTL GWAS1608089 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)6123467816123467817Human
596987783GWAS1107302_Hmemory performance, sex interaction measurement QTL GWAS1107302 (human)0.0000008memory performance, sex interaction measurement6123624155123624156Human
596987782GWAS1107301_Hmemory performance, sex interaction measurement QTL GWAS1107301 (human)0.0000006memory performance, sex interaction measurement6123620527123620528Human
597201165GWAS1297239_Hmemory performance, sex interaction measurement QTL GWAS1297239 (human)0.000002memory performance, sex interaction measurement6123620527123620528Human
407051480GWAS700456_Hphosphocreatine measurement QTL GWAS700456 (human)0.000002phosphocreatine measurement6123301920123301921Human
597612546GWAS1669406_Hdrug allergy QTL GWAS1669406 (human)4e-12drug allergy6123269003123269004Human
596956554GWAS1076073_Hbody mass index QTL GWAS1076073 (human)8e-09body mass indexbody mass index (BMI) (CMO:0000105)6123467816123467817Human
597201158GWAS1297232_Hmemory performance, sex interaction measurement QTL GWAS1297232 (human)0.000002memory performance, sex interaction measurement6123624155123624156Human
597064777GWAS1160851_Hdiabetic foot, neuropathy QTL GWAS1160851 (human)0.0000002diabetic foot, neuropathy6123540174123540175Human
597308795GWAS1404869_Hvaginal microbiome measurement QTL GWAS1404869 (human)0.000004vaginal microbiome measurement6123575400123575401Human
597082546GWAS1178620_Hcognitive decline measurement QTL GWAS1178620 (human)0.000001cognitive behavior trait (VT:0010450)6123371601123371602Human
597443963GWAS1540037_H3- 4-hydroxyphenyl lactate measurement QTL GWAS1540037 (human)0.0000033- 4-hydroxyphenyl lactate measurement6123410140123410141Human
597068337GWAS1164411_HBorderline personality disorder QTL GWAS1164411 (human)0.000007Borderline personality disorder6123558777123558778Human
597528820GWAS1624894_Hcolor vision disorder QTL GWAS1624894 (human)0.000001color vision disorder6123393619123393620Human
597050107GWAS1146181_Hendometriosis QTL GWAS1146181 (human)0.000009endometriosis6123570856123570857Human
597329066GWAS1425140_Hbreast cancer QTL GWAS1425140 (human)0.0000008breast cancer6123478445123478446Human
597243053GWAS1339127_Helectrocardiography QTL GWAS1339127 (human)4e-10electrocardiography6123434519123434520Human
596965792GWAS1085311_Htriglyceride measurement, diet measurement QTL GWAS1085311 (human)0.000006triglyceride measurement, diet measurementfood intake measurement (CMO:0000772)6123592087123592088Human
596988833GWAS1108352_Hmemory performance, sex interaction measurement QTL GWAS1108352 (human)0.000002memory performance, sex interaction measurement6123624155123624156Human
597243052GWAS1339126_Helectrocardiography QTL GWAS1339126 (human)2e-09electrocardiography6123434519123434520Human
597416366GWAS1512440_Hhypertrophic cardiomyopathy QTL GWAS1512440 (human)0.000002hypertrophic cardiomyopathy6123497726123497727Human
596988832GWAS1108351_Hmemory performance, sex interaction measurement QTL GWAS1108351 (human)0.000002memory performance, sex interaction measurement6123620527123620528Human
597367213GWAS1463287_Hintraocular pressure measurement QTL GWAS1463287 (human)1e-11intraocular pressure measurement6123390695123390696Human
597374691GWAS1470765_Hbody mass index QTL GWAS1470765 (human)8e-09body mass indexbody mass index (BMI) (CMO:0000105)6123467816123467817Human
597134766GWAS1230840_Hmemory performance, sex interaction measurement QTL GWAS1230840 (human)0.0000008memory performance, sex interaction measurement6123624155123624156Human
597161773GWAS1257847_Hgamma-glutamyltyrosine measurement QTL GWAS1257847 (human)0.000005gamma-glutamyltyrosine measurement6123275715123275716Human
597134765GWAS1230839_Hmemory performance, sex interaction measurement QTL GWAS1230839 (human)0.0000006memory performance, sex interaction measurement6123620527123620528Human
597020526GWAS1116600_Hforced expiratory volume, response to bronchodilator QTL GWAS1116600 (human)0.000005forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)6123289037123289038Human
597117992GWAS1214066_Hasthma exacerbation measurement, response to corticosteroid QTL GWAS1214066 (human)0.000002asthma exacerbation measurement, response to corticosteroid6123565086123565087Human

Markers in Region
SHGC-54225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,823,067 - 123,823,273UniSTSGRCh37
Build 366123,864,766 - 123,864,972RGDNCBI36
Celera6124,567,127 - 124,567,333RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,400,107 - 121,400,313UniSTS
TNG Radiation Hybrid Map658475.0UniSTS
SHGC-58014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,876,119 - 123,876,217UniSTSGRCh37
Build 366123,917,818 - 123,917,916RGDNCBI36
Celera6124,620,168 - 124,620,266RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,453,392 - 121,453,490UniSTS
TNG Radiation Hybrid Map658479.0UniSTS
RH102304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,823,092 - 123,823,215UniSTSGRCh37
Build 366123,864,791 - 123,864,914RGDNCBI36
Celera6124,567,152 - 124,567,275RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,400,132 - 121,400,255UniSTS
GeneMap99-GB4 RH Map6504.3UniSTS
G59249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,850,673 - 123,850,954UniSTSGRCh37
Build 366123,892,372 - 123,892,653RGDNCBI36
Celera6124,594,730 - 124,595,011RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,427,952 - 121,428,233UniSTS
TNG Radiation Hybrid Map658475.0UniSTS
G59260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,935,160 - 123,935,431UniSTSGRCh37
Build 366123,976,859 - 123,977,130RGDNCBI36
Celera6124,679,213 - 124,679,484RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,512,465 - 121,512,736UniSTS
TNG Radiation Hybrid Map658468.0UniSTS
G62635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,952,042 - 123,952,374UniSTSGRCh37
Build 366123,993,741 - 123,994,073RGDNCBI36
Celera6124,696,091 - 124,696,423RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,529,381 - 121,529,713UniSTS
TNG Radiation Hybrid Map658465.0UniSTS
G63149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,951,867 - 123,952,209UniSTSGRCh37
Build 366123,993,566 - 123,993,908RGDNCBI36
Celera6124,695,916 - 124,696,258RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,529,206 - 121,529,548UniSTS
TNG Radiation Hybrid Map658465.0UniSTS
D6S1128E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,869,611 - 123,869,765UniSTSGRCh37
Build 366123,911,310 - 123,911,464RGDNCBI36
Celera6124,613,662 - 124,613,816RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,446,886 - 121,447,040UniSTS
SHGC-105753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,564,285 - 123,564,462UniSTSGRCh37
Build 366123,605,984 - 123,606,161RGDNCBI36
Cytogenetic Map6q22.31UniSTS
TNG Radiation Hybrid Map658742.0UniSTS
SHGC-106448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,734,194 - 123,734,520UniSTSGRCh37
Build 366123,775,893 - 123,776,219RGDNCBI36
Celera6124,478,259 - 124,478,585RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,311,766 - 121,312,092UniSTS
TNG Radiation Hybrid Map658393.0UniSTS
SHGC-89119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,736,618 - 123,736,951UniSTSGRCh37
Build 366123,778,317 - 123,778,650RGDNCBI36
Celera6124,480,684 - 124,481,017RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,314,191 - 121,314,524UniSTS
TNG Radiation Hybrid Map658370.0UniSTS
WI-11154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,593,188 - 123,593,395UniSTSGRCh37
Build 366123,634,887 - 123,635,094RGDNCBI36
Celera6124,337,253 - 124,337,460RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,170,751 - 121,170,958UniSTS
Whitehead-RH Map6728.2UniSTS
D6S1107E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,539,570 - 123,539,792UniSTSGRCh37
Build 366123,581,269 - 123,581,491RGDNCBI36
Celera6124,283,738 - 124,283,960RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,117,269 - 121,117,491UniSTS
GeneMap99-GB4 RH Map6502.97UniSTS
SHGC-35487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,539,494 - 123,539,696UniSTSGRCh37
Build 366123,581,193 - 123,581,395RGDNCBI36
Celera6124,283,662 - 124,283,864RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,117,193 - 121,117,395UniSTS
Stanford-G3 RH Map65061.0UniSTS
GeneMap99-GB4 RH Map6505.02UniSTS
Whitehead-RH Map6728.3UniSTS
NCBI RH Map61499.6UniSTS
GeneMap99-G3 RH Map65364.0UniSTS
RH35867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376123,949,470 - 123,949,563UniSTSGRCh37
Build 366123,991,169 - 123,991,262RGDNCBI36
Celera6124,693,519 - 124,693,612RGD
Cytogenetic Map6q22.31UniSTS
HuRef6121,526,809 - 121,526,902UniSTS
GeneMap99-GB4 RH Map6504.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1202 2176 2786 2219 4772 1423 1802 3 390 1166 234 2156 5911 5619 29 3637 604 1527 1321 164 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001251987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA401295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI371054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI375093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ489257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL603902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL603911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE646014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM678702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN900469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000334268   ⟹   ENSP00000333984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,216,339 - 123,636,950 (-)Ensembl
Ensembl Acc Id: ENST00000361029   ⟹   ENSP00000354307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,497,037 - 123,587,745 (-)Ensembl
Ensembl Acc Id: ENST00000422596   ⟹   ENSP00000406768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,528,485 - 123,587,685 (-)Ensembl
Ensembl Acc Id: ENST00000542443   ⟹   ENSP00000437684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,528,681 - 123,636,972 (-)Ensembl
Ensembl Acc Id: ENST00000546248   ⟹   ENSP00000439281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,501,830 - 123,637,189 (-)Ensembl
Ensembl Acc Id: ENST00000628709   ⟹   ENSP00000486095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,464,250 - 123,636,909 (-)Ensembl
Ensembl Acc Id: ENST00000662930   ⟹   ENSP00000499585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,349,475 - 123,636,988 (-)Ensembl
Ensembl Acc Id: ENST00000714023   ⟹   ENSP00000519313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,499,795 - 123,587,669 (-)Ensembl
Ensembl Acc Id: ENST00000714024   ⟹   ENSP00000519314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,528,290 - 123,636,993 (-)Ensembl
Ensembl Acc Id: ENST00000714025   ⟹   ENSP00000519315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,533,890 - 123,636,950 (-)Ensembl
Ensembl Acc Id: ENST00000714039   ⟹   ENSP00000519330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,511,580 - 123,587,674 (-)Ensembl
Ensembl Acc Id: ENST00000714040   ⟹   ENSP00000519331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6123,530,499 - 123,604,173 (-)Ensembl
RefSeq Acc Id: NM_001251987   ⟹   NP_001238916
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386123,349,480 - 123,636,950 (-)NCBI
GRCh376123,537,484 - 123,958,428 (-)NCBI
HuRef6121,115,183 - 121,535,579 (-)NCBI
CHM1_16123,934,212 - 124,221,793 (-)NCBI
T2T-CHM13v2.06124,537,276 - 124,824,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256020   ⟹   NP_001242949
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386123,464,250 - 123,636,950 (-)NCBI
GRCh376123,537,484 - 123,958,428 (-)NCBI
HuRef6121,115,183 - 121,535,579 (-)NCBI
CHM1_16124,048,972 - 124,221,793 (-)NCBI
T2T-CHM13v2.06124,652,024 - 124,824,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256021   ⟹   NP_001242950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386123,501,828 - 123,636,950 (-)NCBI
GRCh376123,537,484 - 123,958,428 (-)NCBI
HuRef6121,115,183 - 121,535,579 (-)NCBI
CHM1_16124,086,550 - 124,221,793 (-)NCBI
T2T-CHM13v2.06124,689,581 - 124,824,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256022   ⟹   NP_001242951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386123,528,676 - 123,636,950 (-)NCBI
GRCh376123,537,484 - 123,958,428 (-)NCBI
HuRef6121,115,183 - 121,535,579 (-)NCBI
CHM1_16124,113,394 - 124,221,793 (-)NCBI
T2T-CHM13v2.06124,716,426 - 124,824,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001407315   ⟹   NP_001394244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386123,349,480 - 123,636,950 (-)NCBI
T2T-CHM13v2.06124,537,276 - 124,824,746 (-)NCBI
RefSeq Acc Id: NM_006073   ⟹   NP_006064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386123,216,339 - 123,636,950 (-)NCBI
GRCh376123,537,484 - 123,958,428 (-)NCBI
Build 366123,579,182 - 123,999,641 (-)NCBI Archive
HuRef6121,115,183 - 121,535,579 (-)NCBI
CHM1_16123,801,225 - 124,221,793 (-)NCBI
T2T-CHM13v2.06124,404,293 - 124,824,746 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006064   ⟸   NM_006073
- Peptide Label: isoform 1
- UniProtKB: Q13061 (UniProtKB/Swiss-Prot),   F5H2W7 (UniProtKB/Swiss-Prot),   A5D6W5 (UniProtKB/Swiss-Prot),   Q6NSB8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001238916   ⟸   NM_001251987
- Peptide Label: isoform 2
- UniProtKB: A0A590UJV0 (UniProtKB/TrEMBL),   Q8IVK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242949   ⟸   NM_001256020
- Peptide Label: isoform 3
- UniProtKB: A8K752 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242950   ⟸   NM_001256021
- Peptide Label: isoform 4
- UniProtKB: H9ME53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242951   ⟸   NM_001256022
- Peptide Label: isoform 5
- UniProtKB: A0AAQ5BH94 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000437684   ⟸   ENST00000542443
Ensembl Acc Id: ENSP00000499585   ⟸   ENST00000662930
Ensembl Acc Id: ENSP00000333984   ⟸   ENST00000334268
Ensembl Acc Id: ENSP00000439281   ⟸   ENST00000546248
Ensembl Acc Id: ENSP00000354307   ⟸   ENST00000361029
Ensembl Acc Id: ENSP00000486095   ⟸   ENST00000628709
Ensembl Acc Id: ENSP00000406768   ⟸   ENST00000422596
RefSeq Acc Id: NP_001394244   ⟸   NM_001407315
- Peptide Label: isoform 6
- UniProtKB: Q8IVK2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000519331   ⟸   ENST00000714040
Ensembl Acc Id: ENSP00000519314   ⟸   ENST00000714024
Ensembl Acc Id: ENSP00000519313   ⟸   ENST00000714023
Ensembl Acc Id: ENSP00000519315   ⟸   ENST00000714025
Ensembl Acc Id: ENSP00000519330   ⟸   ENST00000714039
Protein Domains
Aspartyl beta-hydroxylase/Triadin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13061-F1-model_v2 AlphaFold Q13061 1-729 view protein structure

Promoters
RGD ID:7209051
Promoter ID:EPDNEW_H10271
Type:initiation region
Name:TRDN_1
Description:triadin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386123,636,950 - 123,637,010EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12261 AgrOrtholog
COSMIC TRDN COSMIC
Ensembl Genes ENSG00000186439 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000334268 ENTREZGENE
  ENST00000334268.9 UniProtKB/Swiss-Prot
  ENST00000361029.9 UniProtKB/TrEMBL
  ENST00000422596.2 UniProtKB/TrEMBL
  ENST00000542443 ENTREZGENE
  ENST00000542443.5 UniProtKB/Swiss-Prot
  ENST00000546248 ENTREZGENE
  ENST00000546248.6 UniProtKB/TrEMBL
  ENST00000628709 ENTREZGENE
  ENST00000628709.2 UniProtKB/Swiss-Prot
  ENST00000662930 ENTREZGENE
  ENST00000662930.1 UniProtKB/TrEMBL
  ENST00000714023.1 UniProtKB/TrEMBL
  ENST00000714024.1 UniProtKB/TrEMBL
  ENST00000714025.1 UniProtKB/TrEMBL
  ENST00000714039.1 UniProtKB/TrEMBL
  ENST00000714040.1 UniProtKB/TrEMBL
GTEx ENSG00000186439 GTEx
HGNC ID HGNC:12261 ENTREZGENE
Human Proteome Map TRDN Human Proteome Map
InterPro Asp-B-hydro/Triadin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Triadin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10345 UniProtKB/Swiss-Prot
NCBI Gene 10345 ENTREZGENE
OMIM 603283 OMIM
PANTHER PTHR14106 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRIADIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Asp-B-Hydro_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36941 PharmGKB
UniProt A0A590UJV0 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BH94 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BH97_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHB9_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHC7_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHD4_HUMAN UniProtKB/TrEMBL
  A5D6W5 ENTREZGENE
  A8K752 ENTREZGENE, UniProtKB/TrEMBL
  F5H2W7 ENTREZGENE
  H0Y6P0_HUMAN UniProtKB/TrEMBL
  H7BY47_HUMAN UniProtKB/TrEMBL
  H9ME53 ENTREZGENE, UniProtKB/TrEMBL
  Q05C44_HUMAN UniProtKB/TrEMBL
  Q13061 ENTREZGENE
  Q6NSB8 ENTREZGENE
  Q6PG49_HUMAN UniProtKB/TrEMBL
  Q8IVK2 ENTREZGENE, UniProtKB/TrEMBL
  TRDN_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A5D6W5 UniProtKB/Swiss-Prot
  F5H2W7 UniProtKB/Swiss-Prot
  Q6NSB8 UniProtKB/Swiss-Prot