CASQ2 (calsequestrin 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CASQ2 (calsequestrin 2) Homo sapiens
Analyze
Symbol: CASQ2
Name: calsequestrin 2
RGD ID: 737298
HGNC Page HGNC:1513
Description: Enables calcium ion binding activity; calcium ion sequestering activity; and calcium-dependent protein binding activity. Involved in several processes, including cellular response to caffeine; regulation of heart contraction; and sequestering of calcium ion. Located in cytoplasm. Implicated in catecholaminergic polymorphic ventricular tachycardia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calsequestrin 2 (cardiac muscle); calsequestrin 2, fast-twitch, cardiac muscle; calsequestrin, cardiac muscle isoform; calsequestrin-2; FLJ26321; FLJ93514; PDIB2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381115,700,021 - 115,768,714 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1115,700,021 - 115,768,884 (-)EnsemblGRCh38hg38GRCh38
GRCh371116,242,642 - 116,311,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361116,044,147 - 116,112,929 (-)NCBINCBI36Build 36hg18NCBI36
Build 341115,954,684 - 116,023,312NCBI
Celera1114,471,445 - 114,540,231 (-)NCBICelera
Cytogenetic Map1p13.1NCBI
HuRef1114,100,712 - 114,169,492 (-)NCBIHuRef
CHM1_11116,357,421 - 116,426,262 (-)NCBICHM1_1
T2T-CHM13v2.01115,707,724 - 115,776,700 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Sildenafil and FDP-Sr attenuate diabetic cardiomyopathy by suppressing abnormal expression of myocardial CASQ2, FKBP12.6, and SERCA2a in rats. Cheng YS, etal., Acta Pharmacol Sin. 2011 Apr;32(4):441-8. Epub 2011 Mar 28.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Lahat H, etal., Am J Hum Genet 2001 Dec;69(6):1378-84. Epub 2001 Oct 25.
4. Membrane associated Ca2+ buffers in the heart. Lee D and Michalak M, BMB Rep. 2010 Mar;43(3):151-7.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Age-related differences in the expression of proto-oncogene and contractile protein genes in response to pressure overload in the rat myocardium. Takahashi T, etal., J Clin Invest. 1992 Mar;89(3):939-46.
10. Changes in ion channel gene expression underlying heart failure-induced sinoatrial node dysfunction. Yanni J, etal., Circ Heart Fail. 2011 Jul;4(4):496-508. Epub 2011 May 12.
Additional References at PubMed
PMID:1985907   PMID:7721813   PMID:8125298   PMID:8406504   PMID:8889548   PMID:9287354   PMID:9795116   PMID:10748065   PMID:10825439   PMID:11069905   PMID:11113462   PMID:12386154  
PMID:12477932   PMID:12732448   PMID:12858557   PMID:14571276   PMID:14638677   PMID:15050380   PMID:15485681   PMID:15489334   PMID:15698842   PMID:16601229   PMID:16908766   PMID:17045261  
PMID:17531962   PMID:17569730   PMID:17607358   PMID:17655857   PMID:17881003   PMID:17938175   PMID:18399795   PMID:18469084   PMID:18543230   PMID:18669926   PMID:19357236   PMID:19376574  
PMID:19398665   PMID:19403607   PMID:19709828   PMID:20039900   PMID:20301466   PMID:20302875   PMID:21063088   PMID:21265816   PMID:21416293   PMID:21618644   PMID:21685173   PMID:21872879  
PMID:21873635   PMID:22050625   PMID:22123818   PMID:22198169   PMID:22421959   PMID:22481011   PMID:22650415   PMID:23595086   PMID:24127619   PMID:24444446   PMID:25892673   PMID:26153920  
PMID:26186194   PMID:27157848   PMID:27503909   PMID:27609834   PMID:28514442   PMID:30021884   PMID:31482657   PMID:31934898   PMID:32291483   PMID:32296183   PMID:32693635   PMID:32902830  
PMID:33046906   PMID:33961781   PMID:34743414   PMID:34824550   PMID:34855078   PMID:35156780   PMID:35337019   PMID:35543671  


Genomics

Comparative Map Data
CASQ2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381115,700,021 - 115,768,714 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1115,700,021 - 115,768,884 (-)EnsemblGRCh38hg38GRCh38
GRCh371116,242,642 - 116,311,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361116,044,147 - 116,112,929 (-)NCBINCBI36Build 36hg18NCBI36
Build 341115,954,684 - 116,023,312NCBI
Celera1114,471,445 - 114,540,231 (-)NCBICelera
Cytogenetic Map1p13.1NCBI
HuRef1114,100,712 - 114,169,492 (-)NCBIHuRef
CHM1_11116,357,421 - 116,426,262 (-)NCBICHM1_1
T2T-CHM13v2.01115,707,724 - 115,776,700 (-)NCBIT2T-CHM13v2.0
Casq2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393101,993,731 - 102,053,830 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3101,993,731 - 102,053,830 (+)EnsemblGRCm39 Ensembl
GRCm383102,086,415 - 102,146,514 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3102,086,415 - 102,146,514 (+)EnsemblGRCm38mm10GRCm38
MGSCv373101,890,433 - 101,950,437 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363102,205,026 - 102,275,310 (+)NCBIMGSCv36mm8
Celera3104,291,185 - 104,350,741 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map344.3NCBI
Casq2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82192,214,556 - 192,270,821 (+)NCBIGRCr8
mRatBN7.22189,526,003 - 189,582,276 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2189,525,960 - 189,582,267 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2197,154,083 - 197,210,463 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02195,012,238 - 195,067,913 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02189,839,671 - 189,896,025 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02204,512,361 - 204,568,643 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2204,512,302 - 204,568,656 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02223,945,611 - 224,001,893 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42197,182,938 - 197,239,201 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12197,145,718 - 197,201,199 (+)NCBI
Celera2181,958,395 - 182,014,660 (+)NCBICelera
Cytogenetic Map2q34NCBI
Casq2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543518,941,936 - 18,996,200 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543518,941,975 - 18,996,027 (-)NCBIChiLan1.0ChiLan1.0
CASQ2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21108,347,728 - 108,421,140 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11107,950,341 - 108,020,647 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0186,795,392 - 86,864,196 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11121,844,494 - 121,913,311 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1121,844,097 - 121,913,311 (+)Ensemblpanpan1.1panPan2
CASQ2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11753,233,966 - 53,299,093 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1753,224,438 - 53,299,708 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1752,883,024 - 52,948,138 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01754,114,995 - 54,180,159 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1754,115,013 - 54,180,265 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11753,153,853 - 53,218,892 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01753,188,593 - 53,253,716 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01753,761,968 - 53,827,341 (-)NCBIUU_Cfam_GSD_1.0
Casq2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505813,419,602 - 13,487,289 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366271,001,678 - 1,069,438 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366271,001,681 - 1,069,377 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASQ2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4104,918,501 - 104,983,607 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14104,918,204 - 104,984,019 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24115,007,604 - 115,070,817 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CASQ2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12017,937,089 - 18,008,433 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2017,937,524 - 18,008,786 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603820,654,546 - 20,724,412 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Casq2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477211,456,554 - 11,521,939 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477211,458,994 - 11,521,809 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CASQ2
498 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) single nucleotide variant Wolff-Parkinson-White pattern [RCV001796094]|not provided [RCV000523914] Chr1:115768540 [GRCh38]
Chr1:116311161 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526097] Chr1:115701291 [GRCh38]
Chr1:116243912 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.62del (p.Glu21fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002482945]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000033941] Chr1:115768480 [GRCh38]
Chr1:116311101 [GRCh37]
Chr1:1p13.1
pathogenic|not provided
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002496508]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513332]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000033942]|Long QT syndrome [RCV003318336]|not provided [RCV000170900] Chr1:115768445 [GRCh38]
Chr1:116311066 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic|not provided
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) single nucleotide variant Cardiac arrhythmia [RCV001841524]|Cardiomyopathy [RCV000768702]|Cardiovascular phenotype [RCV000243545]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002490410]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513239]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625053]|not provided [RCV000430947]|not specified [RCV000037146] Chr1:115726998 [GRCh38]
Chr1:116269619 [GRCh37]
Chr1:1p13.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001232.4(CASQ2):c.919G>C (p.Asp307His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000019176] Chr1:115705212 [GRCh38]
Chr1:116247833 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513117]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000019177]|not provided [RCV000170902] Chr1:115740794..115740809 [GRCh38]
Chr1:116283415..116283430 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.500T>A (p.Leu167His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000019178] Chr1:115738256 [GRCh38]
Chr1:116280877 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) single nucleotide variant Cardiomyopathy [RCV003150158]|Cardiovascular phenotype [RCV002338869]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000763715]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002522052]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001093859]|not provided [RCV000413265] Chr1:115738281 [GRCh38]
Chr1:116280902 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1015-10C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001466210] Chr1:115701436 [GRCh38]
Chr1:116244057 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) single nucleotide variant Cardiomyopathy [RCV000768700]|Cardiovascular phenotype [RCV000618441]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513458]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625324]|Catecholaminergic polymorphic ventricular tachycardia [RCV000404911]|Caudal regression sequence [RCV002468987]|Neural tube defect [RCV000305567]|not provided [RCV001705667]|not specified [RCV000037128] Chr1:115702930 [GRCh38]
Chr1:116245551 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001232.4(CASQ2):c.1014+9C>T single nucleotide variant Cardiomyopathy [RCV000768699]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513459]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625049]|Catecholaminergic polymorphic ventricular tachycardia [RCV000296580]|Caudal regression sequence [RCV002468988]|Neural tube defect [RCV000396198]|not provided [RCV001534893]|not specified [RCV000037129] Chr1:115702912 [GRCh38]
Chr1:116245533 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) microsatellite Cardiomyopathy [RCV000769724]|Cardiovascular phenotype [RCV002453310]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513460]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003448250]|Catecholaminergic polymorphic ventricular tachycardia [RCV000375569]|not specified [RCV000037131] Chr1:115701292..115701294 [GRCh38]
Chr1:116243913..116243915 [GRCh37]
Chr1:1p13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513461]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343611]|not specified [RCV000037132] Chr1:115701293 [GRCh38]
Chr1:116243914 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) single nucleotide variant Cardiovascular phenotype [RCV000243047]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513462]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000605069]|Catecholaminergic polymorphic ventricular tachycardia [RCV000316256]|Caudal regression sequence [RCV002468989]|Neural tube defect [RCV000301959]|not specified [RCV000037133] Chr1:115701256 [GRCh38]
Chr1:116243877 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) deletion Cardiomyopathy [RCV000769723]|Cardiovascular phenotype [RCV000245930]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513463]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625048]|Primary dilated cardiomyopathy [RCV000852588]|not provided [RCV000170903]|not specified [RCV000037134] Chr1:115701254..115701256 [GRCh38]
Chr1:116243875..116243877 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) single nucleotide variant Cardiovascular phenotype [RCV000243615]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513464]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625047]|Catecholaminergic polymorphic ventricular tachycardia [RCV000279846]|Caudal regression sequence [RCV002468990]|Neural tube defect [RCV000336960]|not provided [RCV001711118]|not specified [RCV000037135] Chr1:115701247 [GRCh38]
Chr1:116243868 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) single nucleotide variant Cardiovascular phenotype [RCV000247814]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513465]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000604412]|Catecholaminergic polymorphic ventricular tachycardia [RCV003125855]|not provided [RCV001711119]|not specified [RCV000037136] Chr1:115768346 [GRCh38]
Chr1:116310967 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) single nucleotide variant Cardiomyopathy [RCV000768706]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513466]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001093917]|not provided [RCV000585900]|not specified [RCV000037137] Chr1:115768344 [GRCh38]
Chr1:116310965 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) single nucleotide variant Cardiomyopathy [RCV000768705]|Cardiovascular phenotype [RCV000253496]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513467]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625056]|not specified [RCV000037138] Chr1:115768316 [GRCh38]
Chr1:116310937 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001232.4(CASQ2):c.420+6T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513468]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000601727]|Catecholaminergic polymorphic ventricular tachycardia [RCV003125856]|not provided [RCV001636624]|not specified [RCV000037139] Chr1:115740722 [GRCh38]
Chr1:116283343 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.421-14G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513469]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625054]|not specified [RCV000037140] Chr1:115738349 [GRCh38]
Chr1:116280970 [GRCh37]
Chr1:1p13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.421-15C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513470]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625055]|not specified [RCV000037141] Chr1:115738350 [GRCh38]
Chr1:116280971 [GRCh37]
Chr1:1p13.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.421-15C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002513471]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100490]|not specified [RCV000037142] Chr1:115738350 [GRCh38]
Chr1:116280971 [GRCh37]
Chr1:1p13.1
benign|likely benign|uncertain significance
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) single nucleotide variant Cardiovascular phenotype [RCV000244068]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103723]|not provided [RCV001719739]|not specified [RCV000037143] Chr1:115738275 [GRCh38]
Chr1:116280896 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg) single nucleotide variant not specified [RCV000037144] Chr1:115725510 [GRCh38]
Chr1:116268131 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs) indel Catecholaminergic polymorphic ventricular tachycardia [RCV000037145] Chr1:115732927..115732929 [GRCh38]
Chr1:116275548..116275550 [GRCh37]
Chr1:1p13.1
likely pathogenic
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
NM_001232.4(CASQ2):c.1051G>A (p.Asp351Asn) single nucleotide variant Inborn genetic diseases [RCV002739005] Chr1:115701390 [GRCh38]
Chr1:116244011 [GRCh37]
Chr1:116045534 [NCBI36]
Chr1:1p13.1
uncertain significance|not provided
NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn) single nucleotide variant not provided [RCV000170899] Chr1:115768448 [GRCh38]
Chr1:116311069 [GRCh37]
Chr1:116112592 [NCBI36]
Chr1:1p13.1
likely pathogenic|not provided
NM_001232.4(CASQ2):c.1090dup (p.Asp364fs) duplication not specified [RCV000037130] Chr1:115701350..115701351 [GRCh38]
Chr1:116243971..116243972 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) single nucleotide variant Cardiovascular phenotype [RCV000619244]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514665]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343650]|not specified [RCV000154688] Chr1:115705270 [GRCh38]
Chr1:116247891 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001232.4(CASQ2):c.-21G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000295080]|not specified [RCV000124124] Chr1:115768562 [GRCh38]
Chr1:116311183 [GRCh37]
Chr1:1p13.1
benign|uncertain significance
NM_001232.4(CASQ2):c.1185del (p.Asp395fs) deletion not provided [RCV000170885] Chr1:115701256 [GRCh38]
Chr1:116243877 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) single nucleotide variant Cardiovascular phenotype [RCV002336398]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515228]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338437]|not provided [RCV000170886] Chr1:115738275 [GRCh38]
Chr1:116280896 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) single nucleotide variant Cardiovascular phenotype [RCV002336399]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485070]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517643]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338438]|not provided [RCV000170887]|not specified [RCV002281993] Chr1:115738253 [GRCh38]
Chr1:116280874 [GRCh37]
Chr1:1p13.1
likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) single nucleotide variant Cardiovascular phenotype [RCV002336400]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485071]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515229]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338439]|not provided [RCV000170888] Chr1:115738238 [GRCh38]
Chr1:116280859 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.606+1G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517644]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338440]|not provided [RCV000170889] Chr1:115732900 [GRCh38]
Chr1:116275521 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) single nucleotide variant Cardiovascular phenotype [RCV002362869]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492703]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338441]|not provided [RCV000170891] Chr1:115727096 [GRCh38]
Chr1:116269717 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515230]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343667]|not provided [RCV000170893] Chr1:115705253 [GRCh38]
Chr1:116247874 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) single nucleotide variant Cardiomyopathy [RCV001170440]|Cardiovascular phenotype [RCV000620988]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002478536]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515231]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001096937]|not provided [RCV000170895] Chr1:115702950 [GRCh38]
Chr1:116245571 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) single nucleotide variant Cardiovascular phenotype [RCV002415723]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343668]|not provided [RCV000170896] Chr1:115701359 [GRCh38]
Chr1:116243980 [GRCh37]
Chr1:1p13.1
likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.1188TGA[2] (p.Asp398del) microsatellite not specified [RCV000223769] Chr1:115701245..115701247 [GRCh38]
Chr1:116243866..116243868 [GRCh37]
Chr1:1p13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.18_20del (p.Leu6del) deletion not provided [RCV000170905] Chr1:115768522..115768524 [GRCh38]
Chr1:116311143..116311145 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.204del (p.Lys68fs) deletion not provided [RCV000170906] Chr1:115768338 [GRCh38]
Chr1:116310959 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) single nucleotide variant Cardiovascular phenotype [RCV000618569]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492704]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516550]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343669]|not provided [RCV000170910] Chr1:115705208 [GRCh38]
Chr1:116247829 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.1127A>G (p.Asp376Gly) single nucleotide variant not provided [RCV000170911] Chr1:115701314 [GRCh38]
Chr1:116243935 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) single nucleotide variant Cardiovascular phenotype [RCV002336401]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515232]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000496259]|not provided [RCV000170912] Chr1:115768424 [GRCh38]
Chr1:116311045 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516551] Chr1:115701423..115701424 [GRCh38]
Chr1:116244044..116244045 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.213del (p.Gln71fs) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492705]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338442]|not provided [RCV000170914] Chr1:115768329 [GRCh38]
Chr1:116310950 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1]) microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002539500] Chr1:115701299..115701310 [GRCh38]
Chr1:116243920..116243931 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103739]|not provided [RCV000170892] Chr1:115717869 [GRCh38]
Chr1:116260490 [GRCh37]
Chr1:1p13.1
likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.10A>T (p.Thr4Ser) single nucleotide variant not provided [RCV000170897] Chr1:115768532 [GRCh38]
Chr1:116311153 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) single nucleotide variant not provided [RCV000170898] Chr1:115768508 [GRCh38]
Chr1:116311129 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002967599] Chr1:115768427 [GRCh38]
Chr1:116311048 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) single nucleotide variant Cardiovascular phenotype [RCV002326939]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485093]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515246]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001102335]|Progressive familial heart block [RCV002285273]|not provided [RCV000171631] Chr1:115701255 [GRCh38]
Chr1:116243876 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) single nucleotide variant Cardiomyopathy [RCV000768698]|Cardiovascular phenotype [RCV003165354]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515247]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001093911]|not provided [RCV000171633] Chr1:115701389 [GRCh38]
Chr1:116244010 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) single nucleotide variant Cardiovascular phenotype [RCV003165355]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492711]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515248]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098683]|not provided [RCV000171634] Chr1:115725539 [GRCh38]
Chr1:116268160 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.11C>T (p.Thr4Ile) single nucleotide variant not provided [RCV000171635] Chr1:115768531 [GRCh38]
Chr1:116311152 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.1183_1185delGAC (p.Asp398del) deletion not provided [RCV000171630] Chr1:115701256..115701258 [GRCh38]
Chr1:116243877..116243879 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1179TGA[3] (p.Asp398dup) microsatellite not provided [RCV000171632] Chr1:115701256..115701257 [GRCh38]
Chr1:116243877..116243878 [GRCh37]
Chr1:1p13.1
uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516016]|not specified [RCV000150221] Chr1:115705208 [GRCh38]
Chr1:116247829 [GRCh37]
Chr1:1p13.1
likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.533-6C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514881]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100487]|not provided [RCV003326359]|not specified [RCV000150225] Chr1:115732980 [GRCh38]
Chr1:116275601 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) single nucleotide variant Cardiovascular phenotype [RCV002336296]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514882]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338424]|not provided [RCV000766919]|not specified [RCV000150226] Chr1:115738277 [GRCh38]
Chr1:116280898 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) single nucleotide variant Cardiomyopathy [RCV000768704]|Cardiovascular phenotype [RCV002345460]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000515273]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514883]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000496815]|not provided [RCV000766686]|not specified [RCV000150227] Chr1:115740772 [GRCh38]
Chr1:116283393 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.234+3A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514884]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338425]|not specified [RCV000150228] Chr1:115768305 [GRCh38]
Chr1:116310926 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.333A>G (p.Glu111=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514886]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338426]|not specified [RCV000150230] Chr1:115740815 [GRCh38]
Chr1:116283436 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) single nucleotide variant Cardiovascular phenotype [RCV002399521]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516018]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338427]|not specified [RCV000150231] Chr1:115768365 [GRCh38]
Chr1:116310986 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.19T>C (p.Phe7Leu) single nucleotide variant not specified [RCV000150232] Chr1:115768523 [GRCh38]
Chr1:116311144 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) microsatellite Cardiomyopathy [RCV001170439]|Cardiovascular phenotype [RCV002453522]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002505176]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002515018]|not provided [RCV000152931]|not specified [RCV000156394] Chr1:115701291..115701292 [GRCh38]
Chr1:116243912..116243913 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) single nucleotide variant Cardiomyopathy [RCV001798501]|Cardiovascular phenotype [RCV002345497]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514972]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338430]|not provided [RCV001697147]|not specified [RCV000154689] Chr1:115732967 [GRCh38]
Chr1:116275588 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) single nucleotide variant Cardiovascular phenotype [RCV002426743]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516107]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001093916]|not specified [RCV000154690] Chr1:115744877 [GRCh38]
Chr1:116287498 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) single nucleotide variant Cardiovascular phenotype [RCV000618959]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514879]|not specified [RCV000150219] Chr1:115701310 [GRCh38]
Chr1:116243931 [GRCh37]
Chr1:1p13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) single nucleotide variant Cardiomyopathy [RCV001170441]|Cardiovascular phenotype [RCV000617384]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516015]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001096938]|not provided [RCV000766689]|not specified [RCV000150220] Chr1:115705203 [GRCh38]
Chr1:116247824 [GRCh37]
Chr1:1p13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002505141]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514880]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343654]|not specified [RCV000150222] Chr1:115725533 [GRCh38]
Chr1:116268154 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) single nucleotide variant Cardiomyopathy [RCV000852589]|Cardiovascular phenotype [RCV000617394]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002516017]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000415704]|Polymorphic ventricular tachycardia [RCV000171562]|Sudden unexplained death [RCV000999608]|not provided [RCV000723880]|not specified [RCV000150224] Chr1:115732940 [GRCh38]
Chr1:116275561 [GRCh37]
Chr1:116077084 [NCBI36]
Chr1:1p13.1
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) single nucleotide variant Cardiovascular phenotype [RCV002453480]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000515172]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002514885]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000496534]|not provided [RCV000170907]|not specified [RCV000150229] Chr1:115740810 [GRCh38]
Chr1:116283431 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) single nucleotide variant Cardiovascular phenotype [RCV002390357]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343663]|not specified [RCV000155652] Chr1:115725534 [GRCh38]
Chr1:116268155 [GRCh37]
Chr1:1p13.1
uncertain significance
Single allele duplication not provided [RCV000152931] Chr1:116243915..116243916 [GRCh37] uncertain significance
NM_001232.3(CASQ2):c.-218T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000262135]|not provided [RCV001610792] Chr1:115768759 [GRCh38]
Chr1:116311380 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.855G>C (p.Leu285=) single nucleotide variant Cardiovascular phenotype [RCV002411179]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519374]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000302756]|not provided [RCV001705439] Chr1:115705276 [GRCh38]
Chr1:116247897 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.926A>G (p.Asp309Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000366713] Chr1:115705205 [GRCh38]
Chr1:116247826 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.546del (p.Phe182fs) deletion Cardiovascular phenotype [RCV003165506]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000208054]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485356]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338461] Chr1:115732961 [GRCh38]
Chr1:116275582 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.738-3C>A single nucleotide variant not specified [RCV000217166] Chr1:115725556 [GRCh38]
Chr1:116268177 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) single nucleotide variant Cardiovascular phenotype [RCV000249385]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001001284]|not specified [RCV000222224] Chr1:115726999 [GRCh38]
Chr1:116269620 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) single nucleotide variant Cardiovascular phenotype [RCV002408931]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517533]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001102445]|not provided [RCV001589123]|not specified [RCV000213554] Chr1:115768369 [GRCh38]
Chr1:116310990 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) single nucleotide variant Cardiovascular phenotype [RCV002372226]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517534]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001093808]|Long QT syndrome [RCV003318370]|not specified [RCV000213801] Chr1:115705257 [GRCh38]
Chr1:116247878 [GRCh37]
Chr1:1p13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001232.4(CASQ2):c.783+3A>T single nucleotide variant not specified [RCV000220754] Chr1:115725505 [GRCh38]
Chr1:116268126 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.940-1G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002503848]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517522]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343709]|Catecholaminergic polymorphic ventricular tachycardia [RCV000222785] Chr1:115702996 [GRCh38]
Chr1:116245617 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002517467]|not specified [RCV000219232] Chr1:115701307 [GRCh38]
Chr1:116243928 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=) single nucleotide variant Cardiovascular phenotype [RCV002321864]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518325]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343717] Chr1:115702924 [GRCh38]
Chr1:116245545 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys) single nucleotide variant Cardiovascular phenotype [RCV003165613]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518328]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338477] Chr1:115740787 [GRCh38]
Chr1:116283408 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys) inversion Cardiovascular phenotype [RCV002378979]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518329]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338478] Chr1:115726998..115726999 [GRCh38]
Chr1:116269619..116269620 [GRCh37]
Chr1:1p13.1
benign|likely benign|uncertain significance
NM_001232.4(CASQ2):c.1015-3C>T single nucleotide variant Cardiovascular phenotype [RCV002327123]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518326]|not specified [RCV000429556] Chr1:115701429 [GRCh38]
Chr1:116244050 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=) single nucleotide variant Cardiovascular phenotype [RCV002347877]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002518327]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343718]|not provided [RCV001589175] Chr1:115701253 [GRCh38]
Chr1:116243874 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000357608] Chr1:115705285 [GRCh38]
Chr1:116247906 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn) single nucleotide variant Cardiovascular phenotype [RCV000619631]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531749]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098682]|not provided [RCV003328607] Chr1:115705233 [GRCh38]
Chr1:116247854 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) single nucleotide variant Cardiovascular phenotype [RCV000618388]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002502159]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002522051]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001093753]|not provided [RCV000994079] Chr1:115702992 [GRCh38]
Chr1:116245613 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.738-5del deletion Cardiomyopathy [RCV001798932]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625050]|not provided [RCV001675944] Chr1:115725558 [GRCh38]
Chr1:116268179 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531916]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625057]|not provided [RCV001700264] Chr1:115768401 [GRCh38]
Chr1:116311022 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526100] Chr1:115725533 [GRCh38]
Chr1:116268154 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=) single nucleotide variant Cardiovascular phenotype [RCV003380531]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338484]|Catecholaminergic polymorphic ventricular tachycardia [RCV001435916]|not specified [RCV000241627] Chr1:115738264 [GRCh38]
Chr1:116280885 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.784-17T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519900]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000612121]|Catecholaminergic polymorphic ventricular tachycardia [RCV003126652]|not provided [RCV001711804]|not specified [RCV000246614] Chr1:115717911 [GRCh38]
Chr1:116260532 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.939+23C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343730]|not provided [RCV001636764]|not specified [RCV000251570] Chr1:115705169 [GRCh38]
Chr1:116247790 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.539A>G (p.Lys180Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000256223] Chr1:115732968 [GRCh38]
Chr1:116275589 [GRCh37]
Chr1:1p13.1
pathogenic|uncertain significance|not provided
NM_001232.4(CASQ2):c.*929C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002494902]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000269003] Chr1:115700312 [GRCh38]
Chr1:116242933 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-226C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000277381] Chr1:115768767 [GRCh38]
Chr1:116311388 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-234C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002494905]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000332379] Chr1:115768775 [GRCh38]
Chr1:116311396 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.-137T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000381336]|not provided [RCV001711865] Chr1:115768678 [GRCh38]
Chr1:116311299 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*503G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002494903]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100355]|Catecholaminergic polymorphic ventricular tachycardia [RCV000359510] Chr1:115700738 [GRCh38]
Chr1:116243359 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-221_-220GT[5] microsatellite Catecholaminergic polymorphic ventricular tachycardia [RCV000341612]|not provided [RCV001566717] Chr1:115768746..115768751 [GRCh38]
Chr1:116311367..116311372 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.*457C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487298]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000324594] Chr1:115700784 [GRCh38]
Chr1:116243405 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-225G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002480064]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338514]|Catecholaminergic polymorphic ventricular tachycardia [RCV000366796] Chr1:115768766 [GRCh38]
Chr1:116311387 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-222C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000312095] Chr1:115768763 [GRCh38]
Chr1:116311384 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1121A>T (p.Asp374Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000281359] Chr1:115701320 [GRCh38]
Chr1:116243941 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.-206_-205dup microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487299]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338510]|Catecholaminergic polymorphic ventricular tachycardia [RCV000291721] Chr1:115768745..115768746 [GRCh38]
Chr1:116311366..116311367 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-221_-220GT[12] microsatellite Catecholaminergic polymorphic ventricular tachycardia [RCV000305381]|not provided [RCV001711866] Chr1:115768745..115768746 [GRCh38]
Chr1:116311366..116311367 [GRCh37]
Chr1:1p13.1
benign|uncertain significance
NM_001232.3(CASQ2):c.-221_-220GT[10] microsatellite Catecholaminergic polymorphic ventricular tachycardia [RCV000340469] Chr1:115768745..115768746 [GRCh38]
Chr1:116311366..116311367 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-221_-220GT[11] microsatellite Catecholaminergic polymorphic ventricular tachycardia [RCV000392651]|not provided [RCV001675773] Chr1:115768745..115768746 [GRCh38]
Chr1:116311366..116311367 [GRCh37]
Chr1:1p13.1
benign|uncertain significance
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526099] Chr1:115768519 [GRCh38]
Chr1:116311140 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) single nucleotide variant Cardiovascular phenotype [RCV002448581]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002490925]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528289]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338641]|not provided [RCV000523944] Chr1:115744912 [GRCh38]
Chr1:116287533 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529041]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338669]|not provided [RCV000579287] Chr1:115768427 [GRCh38]
Chr1:116311048 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.234+2T>C single nucleotide variant Cardiovascular phenotype [RCV002446956]|not provided [RCV000489910] Chr1:115768306 [GRCh38]
Chr1:116310927 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.-105A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000345367] Chr1:115768646 [GRCh38]
Chr1:116311267 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_138959.3(VANGL1):c.*6026G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000398116]|Neural tube defect [RCV000305185]|Sacral defect with anterior meningocele [RCV000405967] Chr1:115697405 [GRCh38]
Chr1:116240026 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*5266C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000382565]|Neural tube defect [RCV000368606]|Sacral defect with anterior meningocele [RCV000311606] Chr1:115696645 [GRCh38]
Chr1:116239266 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*632G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098590]|Catecholaminergic polymorphic ventricular tachycardia [RCV000328082]|Caudal regression sequence [RCV002469119]|Neural tube defect [RCV000383752] Chr1:115700609 [GRCh38]
Chr1:116243230 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*6321T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000398110]|Neural tube defect [RCV000333757]|Sacral defect with anterior meningocele [RCV000369668] Chr1:115697700 [GRCh38]
Chr1:116240321 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.-212_-211insATGTGT microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002504029]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338511]|Catecholaminergic polymorphic ventricular tachycardia [RCV000403595] Chr1:115768752..115768753 [GRCh38]
Chr1:116311373..116311374 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_138959.3(VANGL1):c.*6763dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV000358564]|Caudal regression sequence [RCV002469116]|Neural tube defect [RCV000406526] Chr1:115698135..115698136 [GRCh38]
Chr1:116240756..116240757 [GRCh37]
Chr1:1p13.1
likely benign
NM_138959.3(VANGL1):c.*5633T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000348097]|Neural tube defect [RCV000347947]|Sacral defect with anterior meningocele [RCV000401932] Chr1:115697012 [GRCh38]
Chr1:116239633 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*138T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100360]|Catecholaminergic polymorphic ventricular tachycardia [RCV000378985]|Caudal regression sequence [RCV002469121]|Neural tube defect [RCV000352500]|not provided [RCV001651328] Chr1:115701103 [GRCh38]
Chr1:116243724 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.1120G>A (p.Asp374Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000350381] Chr1:115701321 [GRCh38]
Chr1:116243942 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.*1052A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000406177] Chr1:115700189 [GRCh38]
Chr1:116242810 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002494904]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000351661] Chr1:115702929 [GRCh38]
Chr1:116245550 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC indel Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002487300]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338512]|Catecholaminergic polymorphic ventricular tachycardia [RCV000297287] Chr1:115768759 [GRCh38]
Chr1:116311380 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_138959.3(VANGL1):c.*6199A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000314375]|Neural tube defect [RCV000263564]|Sacral defect with anterior meningocele [RCV000300055] Chr1:115697578 [GRCh38]
Chr1:116240199 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*482C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100356]|Catecholaminergic polymorphic ventricular tachycardia [RCV000264813]|Caudal regression sequence [RCV002469120]|Neural tube defect [RCV000272946] Chr1:115700759 [GRCh38]
Chr1:116243380 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*5368G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000288393]|Neural tube defect [RCV000265610]|Sacral defect with anterior meningocele [RCV000318419] Chr1:115696747 [GRCh38]
Chr1:116239368 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*1123_*1124del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV000366862]|Caudal regression sequence [RCV002469117]|Neural tube defect [RCV000304854] Chr1:115700117..115700118 [GRCh38]
Chr1:116242738..116242739 [GRCh37]
Chr1:1p13.1
likely benign
NM_138959.3(VANGL1):c.*5751A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000404017]|Neural tube defect [RCV000302151]|Sacral defect with anterior meningocele [RCV000268122] Chr1:115697130 [GRCh38]
Chr1:116239751 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*1017del deletion Catecholaminergic polymorphic ventricular tachycardia [RCV000363599]|Caudal regression sequence [RCV002469118]|Neural tube defect [RCV000269640] Chr1:115700224 [GRCh38]
Chr1:116242845 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-7_738-5del deletion Cardiomyopathy [RCV000768701]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625051]|not provided [RCV001572932]|not specified [RCV001724100] Chr1:115725558..115725560 [GRCh38]
Chr1:116268179..116268181 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*6212C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000336594]|Neural tube defect [RCV000274165]|Sacral defect with anterior meningocele [RCV000368682] Chr1:115697591 [GRCh38]
Chr1:116240212 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*4478C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000287045]|Neural tube defect [RCV000276840]|Sacral defect with anterior meningocele [RCV000334225] Chr1:115695857 [GRCh38]
Chr1:116238478 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*6721A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000301457]|Neural tube defect [RCV000406689]|Sacral defect with anterior meningocele [RCV000278543] Chr1:115698100 [GRCh38]
Chr1:116240721 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*4504C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000323321]|Neural tube defect [RCV000367832]|Sacral defect with anterior meningocele [RCV000275598] Chr1:115695883 [GRCh38]
Chr1:116238504 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.-219_-218insCGTGTG microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002480063]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338513]|Catecholaminergic polymorphic ventricular tachycardia [RCV000356917] Chr1:115768759..115768760 [GRCh38]
Chr1:116311380..116311381 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.*1183CTAA[1] microsatellite Catecholaminergic polymorphic ventricular tachycardia [RCV000312152] Chr1:115700051..115700054 [GRCh38]
Chr1:116242672..116242675 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_138959.3(VANGL1):c.*5995A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000349308]|Neural tube defect [RCV000287498]|Sacral defect with anterior meningocele [RCV000344757] Chr1:115697374 [GRCh38]
Chr1:116239995 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_138959.3(VANGL1):c.*5841A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV000294262]|Neural tube defect [RCV000372479]|Sacral defect with anterior meningocele [RCV000320050] Chr1:115697220 [GRCh38]
Chr1:116239841 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*143G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100359]|Caudal regression sequence [RCV002469138]|Neural tube defect [RCV000295342] Chr1:115701098 [GRCh38]
Chr1:116243719 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.*1017dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV000313613] Chr1:115700223..115700224 [GRCh38]
Chr1:116242844..116242845 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.440A>G (p.Glu147Gly) single nucleotide variant Cardiovascular phenotype [RCV000621965] Chr1:115738316 [GRCh38]
Chr1:116280937 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.702A>G (p.Glu234=) single nucleotide variant Cardiovascular phenotype [RCV000620425]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528384]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338653]|not specified [RCV000606461] Chr1:115727027 [GRCh38]
Chr1:116269648 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002481702]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003114648]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338634]|not provided [RCV000523736] Chr1:115740819..115740821 [GRCh38]
Chr1:116283440..116283442 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.421-7A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533141]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625325]|not specified [RCV001700271] Chr1:115738342 [GRCh38]
Chr1:116280963 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529911] Chr1:115701320 [GRCh38]
Chr1:116243941 [GRCh37]
Chr1:1p13.1
uncertain significance
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12
pathogenic
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) single nucleotide variant Cardiovascular phenotype [RCV002411418]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002522705]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343830]|not provided [RCV001696796] Chr1:115725517 [GRCh38]
Chr1:116268138 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.784-17T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002519516]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343814]|not specified [RCV000427400] Chr1:115717911 [GRCh38]
Chr1:116260532 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.-47A>G single nucleotide variant not provided [RCV001704440] Chr1:115768588 [GRCh38]
Chr1:116311209 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.737+19G>C single nucleotide variant not specified [RCV000443131] Chr1:115726973 [GRCh38]
Chr1:116269594 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.320-18C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002488873]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002524756]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338581]|not specified [RCV000422528] Chr1:115740846 [GRCh38]
Chr1:116283467 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.621A>G (p.Leu207=) single nucleotide variant not specified [RCV000422936] Chr1:115727108 [GRCh38]
Chr1:116269729 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.-30T>C single nucleotide variant not specified [RCV000444365] Chr1:115768571 [GRCh38]
Chr1:116311192 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.691C>A (p.Pro231Thr) single nucleotide variant not provided [RCV000441033] Chr1:115727038 [GRCh38]
Chr1:116269659 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525576] Chr1:115738310 [GRCh38]
Chr1:116280931 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.235-2A>G single nucleotide variant Cardiovascular phenotype [RCV000618299]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103779]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338598]|not provided [RCV001546335] Chr1:115744914 [GRCh38]
Chr1:116287535 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val) single nucleotide variant Cardiovascular phenotype [RCV002402269]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525575]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343837] Chr1:115701395 [GRCh38]
Chr1:116244016 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002481514]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526573]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003147480]|not provided [RCV000486661] Chr1:115727114 [GRCh38]
Chr1:116269735 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.606+7A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525670] Chr1:115732894 [GRCh38]
Chr1:116275515 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-6_738-5del deletion Cardiomyopathy [RCV001798817]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343833]|not provided [RCV001573940]|not specified [RCV000456085] Chr1:115725558..115725559 [GRCh38]
Chr1:116268179..116268180 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.423A>G (p.Leu141=) single nucleotide variant Cardiomyopathy [RCV001170446]|Cardiovascular phenotype [RCV002329124]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526483]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338601] Chr1:115738333 [GRCh38]
Chr1:116280954 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.921C>T (p.Asp307=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002525669] Chr1:115705210 [GRCh38]
Chr1:116247831 [GRCh37]
Chr1:1p13.1
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) single nucleotide variant Cardiovascular phenotype [RCV000618128]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526063]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000497364] Chr1:115768378 [GRCh38]
Chr1:116310999 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002527048]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000497882] Chr1:115725508 [GRCh38]
Chr1:116268129 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
GRCh37/hg19 1p13.2-13.1(chr1:116065879-116693221)x3 copy number gain See cases [RCV000511605] Chr1:116065879..116693221 [GRCh37]
Chr1:1p13.2-13.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001232.4(CASQ2):c.738-8_738-5del deletion Cardiomyopathy [RCV001170443]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000625052]|not provided [RCV001724101]|not specified [RCV001193555] Chr1:115725558..115725561 [GRCh38]
Chr1:116268179..116268182 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del) deletion Cardiovascular phenotype [RCV002323959]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003153702]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343903] Chr1:115701308..115701310 [GRCh38]
Chr1:116243929..116243931 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter) single nucleotide variant Cardiovascular phenotype [RCV003301708] Chr1:115701413 [GRCh38]
Chr1:116244034 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) single nucleotide variant Cardiovascular phenotype [RCV003303018]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529910]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338703] Chr1:115768367 [GRCh38]
Chr1:116310988 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) single nucleotide variant Cardiovascular phenotype [RCV000618889]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002499002]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531789]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343953]|not provided [RCV001591383] Chr1:115705238 [GRCh38]
Chr1:116247859 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.627G>A (p.Leu209=) single nucleotide variant Cardiovascular phenotype [RCV002368062]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529588]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338685]|not specified [RCV000602471] Chr1:115727102 [GRCh38]
Chr1:116269723 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.639G>A (p.Glu213=) single nucleotide variant Cardiovascular phenotype [RCV003301705] Chr1:115727090 [GRCh38]
Chr1:116269711 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1047T>C (p.Asp349=) single nucleotide variant Cardiovascular phenotype [RCV003301707] Chr1:115701394 [GRCh38]
Chr1:116244015 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) single nucleotide variant Cardiovascular phenotype [RCV000618067]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531804]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338691] Chr1:115768313 [GRCh38]
Chr1:116310934 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) single nucleotide variant Cardiovascular phenotype [RCV002343258]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002483824]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529912]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338704] Chr1:115738265 [GRCh38]
Chr1:116280886 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.-22C>T single nucleotide variant not specified [RCV000616284] Chr1:115768563 [GRCh38]
Chr1:116311184 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.225C>T (p.Ile75=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002526098]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001102444] Chr1:115768317 [GRCh38]
Chr1:116310938 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del) microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531871]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343954]|not specified [RCV000622912] Chr1:115701311..115701313 [GRCh38]
Chr1:116243932..116243934 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.311A>C (p.Lys104Thr) single nucleotide variant not specified [RCV000611121] Chr1:115744836 [GRCh38]
Chr1:116287457 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.607-15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002532711]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338679]|not specified [RCV000613902] Chr1:115727137 [GRCh38]
Chr1:116269758 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup) microsatellite Cardiovascular phenotype [RCV002350497]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002528525]|not specified [RCV000611804] Chr1:115701244..115701245 [GRCh38]
Chr1:116243865..116243866 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.1026C>T (p.Val342=) single nucleotide variant not specified [RCV000605216] Chr1:115701415 [GRCh38]
Chr1:116244036 [GRCh37]
Chr1:1p13.1
likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) single nucleotide variant Cardiovascular phenotype [RCV002404652]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002529641]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338686]|not specified [RCV000604461] Chr1:115768365 [GRCh38]
Chr1:116310986 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.939+1G>T single nucleotide variant Cardiovascular phenotype [RCV000620389]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002506505]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002531779]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV002470933]|not provided [RCV001546390] Chr1:115705191 [GRCh38]
Chr1:116247812 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.738-11_738-5del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002498873]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003343937]|not specified [RCV000595974] Chr1:115725558..115725564 [GRCh38]
Chr1:116268179..116268185 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533641] Chr1:115732966 [GRCh38]
Chr1:116275587 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.603A>G (p.Lys201=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533557] Chr1:115732904 [GRCh38]
Chr1:116275525 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) single nucleotide variant Cardiovascular phenotype [RCV002360817]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485753]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533700]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338742] Chr1:115727038 [GRCh38]
Chr1:116269659 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002534409] Chr1:115705237 [GRCh38]
Chr1:116247858 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) single nucleotide variant Cardiovascular phenotype [RCV002388254]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485675]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002532267] Chr1:115725543 [GRCh38]
Chr1:116268164 [GRCh37]
Chr1:1p13.1
likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) single nucleotide variant Cardiovascular phenotype [RCV002442479]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002485695]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002533472]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003344004]|not specified [RCV003403618] Chr1:115705271 [GRCh38]
Chr1:116247892 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.924G>A (p.Pro308=) single nucleotide variant Cardiovascular phenotype [RCV002370146]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537223] Chr1:115705207 [GRCh38]
Chr1:116247828 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537226] Chr1:115705275 [GRCh38]
Chr1:116247896 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002505531]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001002206] Chr1:115705205 [GRCh38]
Chr1:116247826 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.607-284A>G single nucleotide variant not provided [RCV001567273] Chr1:115727406 [GRCh38]
Chr1:116270027 [GRCh37]
Chr1:1p13.1
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p13.1(chr1:116232678-116296777)x3 copy number gain not provided [RCV000749151] Chr1:116232678..116296777 [GRCh37]
Chr1:1p13.1
benign
GRCh37/hg19 1p13.1(chr1:116234313-116295007)x3 copy number gain not provided [RCV000749152] Chr1:116234313..116295007 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.87T>C (p.Asp29=) single nucleotide variant Cardiovascular phenotype [RCV002445070]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338874]|Catecholaminergic polymorphic ventricular tachycardia [RCV001490590] Chr1:115768455 [GRCh38]
Chr1:116311076 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.838+263_838+266del deletion not provided [RCV001583234] Chr1:115717574..115717577 [GRCh38]
Chr1:116260195..116260198 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.784-55A>G single nucleotide variant not provided [RCV001679257] Chr1:115717949 [GRCh38]
Chr1:116260570 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.319+40C>T single nucleotide variant not provided [RCV001586308] Chr1:115744788 [GRCh38]
Chr1:116287409 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1014+180G>A single nucleotide variant not provided [RCV001577806] Chr1:115702741 [GRCh38]
Chr1:116245362 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.474C>T (p.Phe158=) single nucleotide variant Cardiovascular phenotype [RCV002332799]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536754]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338832] Chr1:115738282 [GRCh38]
Chr1:116280903 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.435A>G (p.Pro145=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001413870] Chr1:115738321 [GRCh38]
Chr1:116280942 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001065165] Chr1:115726996 [GRCh38]
Chr1:116269617 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553379] Chr1:115744897 [GRCh38]
Chr1:116287518 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) single nucleotide variant Cardiovascular phenotype [RCV002415954]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003153870]|not specified [RCV000825714] Chr1:115768462 [GRCh38]
Chr1:116311083 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536870]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338788]|not specified [RCV000781194] Chr1:115768441 [GRCh38]
Chr1:116311062 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1085T>C (p.Ile362Thr) single nucleotide variant not specified [RCV000781195] Chr1:115701356 [GRCh38]
Chr1:116243977 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.150C>T (p.Asp50=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002540936] Chr1:115768392 [GRCh38]
Chr1:116311013 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.711G>A (p.Leu237=) single nucleotide variant not provided [RCV000897470] Chr1:115727018 [GRCh38]
Chr1:116269639 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-12_738-5del deletion Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003344091]|not provided [RCV000861329]|not specified [RCV001193556] Chr1:115725558..115725565 [GRCh38]
Chr1:116268179..116268186 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.607-4A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003246686] Chr1:115727126 [GRCh38]
Chr1:116269747 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys) single nucleotide variant Cardiomyopathy [RCV000768703]|Cardiovascular phenotype [RCV002352276]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338785] Chr1:115740766 [GRCh38]
Chr1:116283387 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.320-10T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001423853] Chr1:115740838 [GRCh38]
Chr1:116283459 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.320-77C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001554693]|not provided [RCV000830948] Chr1:115740905 [GRCh38]
Chr1:116283526 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.784-29G>A single nucleotide variant not provided [RCV000830950] Chr1:115717923 [GRCh38]
Chr1:116260544 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.940-193G>A single nucleotide variant not provided [RCV000831415] Chr1:115703188 [GRCh38]
Chr1:116245809 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537337] Chr1:115738281 [GRCh38]
Chr1:116280902 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.320-268G>T single nucleotide variant not provided [RCV000828693] Chr1:115741096 [GRCh38]
Chr1:116283717 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.839-253G>A single nucleotide variant not provided [RCV000832031] Chr1:115705545 [GRCh38]
Chr1:116248166 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.320-250T>C single nucleotide variant not provided [RCV000838045] Chr1:115741078 [GRCh38]
Chr1:116283699 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.421-18G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538275]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338827]|not provided [RCV000829293] Chr1:115738353 [GRCh38]
Chr1:116280974 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.420+220T>C single nucleotide variant not provided [RCV000834797] Chr1:115740508 [GRCh38]
Chr1:116283129 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.939+190G>A single nucleotide variant not provided [RCV000834883] Chr1:115705002 [GRCh38]
Chr1:116247623 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.320-298A>G single nucleotide variant not provided [RCV000843448] Chr1:115741126 [GRCh38]
Chr1:116283747 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.737+282G>T single nucleotide variant not provided [RCV000843449] Chr1:115726710 [GRCh38]
Chr1:116269331 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.939+256G>C single nucleotide variant not provided [RCV000843450] Chr1:115704936 [GRCh38]
Chr1:116247557 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.939+278C>G single nucleotide variant not provided [RCV000843451] Chr1:115704914 [GRCh38]
Chr1:116247535 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.421-20A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538274]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338826]|not provided [RCV000829292] Chr1:115738355 [GRCh38]
Chr1:116280976 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) single nucleotide variant Cardiovascular phenotype [RCV003166189]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003338807]|Catecholaminergic polymorphic ventricular tachycardia [RCV000800247] Chr1:115768337 [GRCh38]
Chr1:116310958 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.783+59T>G single nucleotide variant not provided [RCV000838697] Chr1:115725449 [GRCh38]
Chr1:116268070 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.235-149A>G single nucleotide variant not provided [RCV000831282] Chr1:115745061 [GRCh38]
Chr1:116287682 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.320-176T>C single nucleotide variant not provided [RCV000831283] Chr1:115741004 [GRCh38]
Chr1:116283625 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.784-89C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001554691]|not provided [RCV000831284] Chr1:115717983 [GRCh38]
Chr1:116260604 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.607-113C>T single nucleotide variant not provided [RCV000833681] Chr1:115727235 [GRCh38]
Chr1:116269856 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1015-119G>A single nucleotide variant not provided [RCV000831623] Chr1:115701545 [GRCh38]
Chr1:116244166 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.420+226T>A single nucleotide variant not provided [RCV000838274] Chr1:115740502 [GRCh38]
Chr1:116283123 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-109G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001554692]|not provided [RCV000830949] Chr1:115725662 [GRCh38]
Chr1:116268283 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.533-297G>C single nucleotide variant not provided [RCV000831116] Chr1:115733271 [GRCh38]
Chr1:116275892 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.839-10C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537120] Chr1:115705302 [GRCh38]
Chr1:116247923 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.319+92G>A single nucleotide variant not provided [RCV000836018] Chr1:115744736 [GRCh38]
Chr1:116287357 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002537049] Chr1:115701273 [GRCh38]
Chr1:116243894 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.783+3A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536017] Chr1:115725505 [GRCh38]
Chr1:116268126 [GRCh37]
Chr1:1p13.1
uncertain significance
GRCh37/hg19 1p13.1(chr1:116245898-116288841)x3 copy number gain not provided [RCV000848823] Chr1:116245898..116288841 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-380A>G single nucleotide variant not provided [RCV000833530] Chr1:115768921 [GRCh38]
Chr1:116311542 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.*1207A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001096830] Chr1:115700034 [GRCh38]
Chr1:116242655 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-221G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001097040] Chr1:115768762 [GRCh38]
Chr1:116311383 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.940-39C>G single nucleotide variant not provided [RCV000830114] Chr1:115703034 [GRCh38]
Chr1:116245655 [GRCh37]
Chr1:1p13.1
benign
NC_000001.11:g.(?_115701231)_(115744922_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV001031428] Chr1:116243852..116287543 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) single nucleotide variant Cardiovascular phenotype [RCV002354893]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550596]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV000986400] Chr1:115740767 [GRCh38]
Chr1:116283388 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.*574T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098591] Chr1:115700667 [GRCh38]
Chr1:116243288 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.235-301C>T single nucleotide variant not provided [RCV000828692] Chr1:115745213 [GRCh38]
Chr1:116287834 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.940-283A>G single nucleotide variant not provided [RCV000843452] Chr1:115703278 [GRCh38]
Chr1:116245899 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.939+268G>A single nucleotide variant not provided [RCV000828906] Chr1:115704924 [GRCh38]
Chr1:116247545 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.3(CASQ2):c.-587G>A single nucleotide variant not provided [RCV000828911] Chr1:115769128 [GRCh38]
Chr1:116311749 [GRCh37]
Chr1:1p13.1
benign
NM_001232.3(CASQ2):c.-581T>G single nucleotide variant not provided [RCV000828915] Chr1:115769122 [GRCh38]
Chr1:116311743 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.234+111C>G single nucleotide variant not provided [RCV000831267] Chr1:115768197 [GRCh38]
Chr1:116310818 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.939+256G>T single nucleotide variant not provided [RCV000844022] Chr1:115704936 [GRCh38]
Chr1:116247557 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.1015-251G>T single nucleotide variant not provided [RCV000844023] Chr1:115701677 [GRCh38]
Chr1:116244298 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.421C>T (p.Leu141=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002534628] Chr1:115738335 [GRCh38]
Chr1:116280956 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.738-121C>T single nucleotide variant not provided [RCV000834865] Chr1:115725674 [GRCh38]
Chr1:116268295 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.939+132G>T single nucleotide variant not provided [RCV000834866] Chr1:115705060 [GRCh38]
Chr1:116247681 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.940-60G>T single nucleotide variant not provided [RCV000834867] Chr1:115703055 [GRCh38]
Chr1:116245676 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.784-247T>A single nucleotide variant not provided [RCV000838756] Chr1:115718141 [GRCh38]
Chr1:116260762 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.783+280C>T single nucleotide variant not provided [RCV000832076] Chr1:115725228 [GRCh38]
Chr1:116267849 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002536255] Chr1:115701274 [GRCh38]
Chr1:116243895 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.783+256C>G single nucleotide variant not provided [RCV000832771] Chr1:115725252 [GRCh38]
Chr1:116267873 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.838+275C>T single nucleotide variant not provided [RCV000832772] Chr1:115717565 [GRCh38]
Chr1:116260186 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.3(CASQ2):c.-261T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098772] Chr1:115768802 [GRCh38]
Chr1:116311423 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.*655C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098588] Chr1:115700586 [GRCh38]
Chr1:116243207 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002505654]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554554]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339457] Chr1:115768444 [GRCh38]
Chr1:116311065 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic|uncertain significance
NM_001232.4(CASQ2):c.1002G>A (p.Val334=) single nucleotide variant not provided [RCV000994078] Chr1:115702933 [GRCh38]
Chr1:116245554 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.738-10_738-5del deletion not specified [RCV001174567] Chr1:115725558..115725563 [GRCh38]
Chr1:116268179..116268184 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.1015-1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563804] Chr1:115701427 [GRCh38]
Chr1:116244048 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561715] Chr1:115701253 [GRCh38]
Chr1:116243874 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del) deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561137] Chr1:115738278..115738289 [GRCh38]
Chr1:116280899..116280910 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) single nucleotide variant Cardiovascular phenotype [RCV003294065]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002504281]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562537]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339539] Chr1:115740739 [GRCh38]
Chr1:116283360 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys) single nucleotide variant Cardiovascular phenotype [RCV002339666]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002568540]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339556] Chr1:115738278 [GRCh38]
Chr1:116280899 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) single nucleotide variant Cardiovascular phenotype [RCV002375260]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002567924]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346402] Chr1:115705198 [GRCh38]
Chr1:116247819 [GRCh37]
Chr1:1p13.1
uncertain significance
GRCh37/hg19 1p13.1(chr1:116105961-116397171)x3 copy number gain not provided [RCV000847247] Chr1:116105961..116397171 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.533-12T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100488] Chr1:115732986 [GRCh38]
Chr1:116275607 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.501C>G (p.Leu167=) single nucleotide variant Cardiovascular phenotype [RCV002348557]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002556032]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100489] Chr1:115738255 [GRCh38]
Chr1:116280876 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NC_000001.10:g.(?_116310909)_(116947066_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003105678] Chr1:116310909..116947066 [GRCh37]
Chr1:1p13.1
uncertain significance
NC_000001.10:g.(?_116260441)_(116311162_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003105679] Chr1:116260441..116311162 [GRCh37]
Chr1:1p13.1
uncertain significance
NC_000001.10:g.(?_116275502)_(116280976_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003105680] Chr1:116275502..116280976 [GRCh37]
Chr1:1p13.1
uncertain significance
NC_000001.10:g.(?_116243862)_(116311162_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003105681] Chr1:116243862..116311162 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.784-52C>T single nucleotide variant not provided [RCV001575781] Chr1:115717946 [GRCh38]
Chr1:116260567 [GRCh37]
Chr1:1p13.1
likely benign
NC_000001.10:g.(?_113456513)_(116311162_?)dup duplication RASopathy [RCV003107709] Chr1:113456513..116311162 [GRCh37]
Chr1:1p13.2-13.1
uncertain significance
NM_001232.4(CASQ2):c.533-271C>T single nucleotide variant not provided [RCV001555811] Chr1:115733245 [GRCh38]
Chr1:116275866 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.235-118C>T single nucleotide variant not provided [RCV001651430] Chr1:115745030 [GRCh38]
Chr1:116287651 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.607-25T>G single nucleotide variant not provided [RCV001551056] Chr1:115727147 [GRCh38]
Chr1:116269768 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.234+297C>A single nucleotide variant not provided [RCV001551381] Chr1:115768011 [GRCh38]
Chr1:116310632 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.532+9T>G single nucleotide variant not provided [RCV000895103] Chr1:115738215 [GRCh38]
Chr1:116280836 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.495C>T (p.Ile165=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia [RCV001481448] Chr1:115738261 [GRCh38]
Chr1:116280882 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561780] Chr1:115738290 [GRCh38]
Chr1:116280911 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.738-27dup duplication Cardiomyopathy [RCV001170444]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002491483]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346347]|not provided [RCV001539289] Chr1:115725557..115725558 [GRCh38]
Chr1:116268178..116268179 [GRCh37]
Chr1:1p13.1
benign|likely benign
NM_001232.4(CASQ2):c.5A>G (p.Lys2Arg) single nucleotide variant Cardiomyopathy [RCV001170447] Chr1:115768537 [GRCh38]
Chr1:116311158 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002484127]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561701]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346365] Chr1:115705254 [GRCh38]
Chr1:116247875 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) single nucleotide variant Cardiovascular phenotype [RCV003353260]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002499412]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564080]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339562] Chr1:115740822 [GRCh38]
Chr1:116283443 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.*175T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100358]|not provided [RCV001619885] Chr1:115701066 [GRCh38]
Chr1:116243687 [GRCh37]
Chr1:1p13.1
benign|uncertain significance
NM_001232.4(CASQ2):c.759C>T (p.Arg253=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002544505] Chr1:115725532 [GRCh38]
Chr1:116268153 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.737+28G>A single nucleotide variant not provided [RCV001558413] Chr1:115726964 [GRCh38]
Chr1:116269585 [GRCh37]
Chr1:1p13.1
likely benign
NC_000001.11:g.115768856CT[1] microsatellite not provided [RCV001644080] Chr1:115768856..115768857 [GRCh38]
Chr1:116311477..116311478 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003234851] Chr1:115726993 [GRCh38]
Chr1:116269614 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.235-80T>C single nucleotide variant not provided [RCV001592102] Chr1:115744992 [GRCh38]
Chr1:116287613 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.235-101T>C single nucleotide variant not provided [RCV001621114] Chr1:115745013 [GRCh38]
Chr1:116287634 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.737+6T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003120645]|not provided [RCV001595862] Chr1:115726986 [GRCh38]
Chr1:116269607 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.319+144G>A single nucleotide variant not provided [RCV001641700] Chr1:115744684 [GRCh38]
Chr1:116287305 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.1014+161C>A single nucleotide variant not provided [RCV001678474] Chr1:115702760 [GRCh38]
Chr1:116245381 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.*38G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001102334] Chr1:115701203 [GRCh38]
Chr1:116243824 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.738-9_738-5del deletion not specified [RCV001193554] Chr1:115725558..115725562 [GRCh38]
Chr1:116268179..116268183 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.*332A>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002480470]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001100357] Chr1:115700909 [GRCh38]
Chr1:116243530 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.705G>T (p.Glu235Asp) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001614467] Chr1:115727024 [GRCh38]
Chr1:116269645 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.652G>A (p.Glu218Lys) single nucleotide variant not provided [RCV001700622] Chr1:115727077 [GRCh38]
Chr1:116269698 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.234+29G>A single nucleotide variant not provided [RCV001679514] Chr1:115768279 [GRCh38]
Chr1:116310900 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.1014+3G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001096936] Chr1:115702918 [GRCh38]
Chr1:116245539 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.3(CASQ2):c.-206T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001097039]|not provided [RCV001527952] Chr1:115768747 [GRCh38]
Chr1:116311368 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) single nucleotide variant Cardiovascular phenotype [RCV003307885]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002489651]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002554403]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339449] Chr1:115768459 [GRCh38]
Chr1:116311080 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.*636G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098589] Chr1:115700605 [GRCh38]
Chr1:116243226 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) single nucleotide variant Cardiovascular phenotype [RCV002365798]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002556008]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001098684] Chr1:115727056 [GRCh38]
Chr1:116269677 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) single nucleotide variant Cardiovascular phenotype [RCV002400235]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002489565]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552490]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339437]|not provided [RCV001759739] Chr1:115768384 [GRCh38]
Chr1:116311005 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1195G>A (p.Glu399Lys) single nucleotide variant Cardiomyopathy [RCV001170216] Chr1:115701246 [GRCh38]
Chr1:116243867 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561097] Chr1:115768444 [GRCh38]
Chr1:116311065 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.*1023A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001096831] Chr1:115700218 [GRCh38]
Chr1:116242839 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys) single nucleotide variant Cardiomyopathy [RCV001170442]|Cardiovascular phenotype [RCV002393380]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002558708]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346346] Chr1:115725540 [GRCh38]
Chr1:116268161 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.532T>C (p.Tyr178His) single nucleotide variant Cardiomyopathy [RCV001170445] Chr1:115738224 [GRCh38]
Chr1:116280845 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1165G>T (p.Asp389Tyr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001102336] Chr1:115701276 [GRCh38]
Chr1:116243897 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) single nucleotide variant Cardiovascular phenotype [RCV002436977]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002568756]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339568]|Conduction disorder of the heart [RCV001256930] Chr1:115744858 [GRCh38]
Chr1:116287479 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.320-278C>T single nucleotide variant not provided [RCV001548669] Chr1:115741106 [GRCh38]
Chr1:116283727 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) single nucleotide variant Cardiovascular phenotype [RCV002378353] Chr1:115727014 [GRCh38]
Chr1:116269635 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555115] Chr1:115701367 [GRCh38]
Chr1:116243988 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.737+2T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001335768] Chr1:115726990 [GRCh38]
Chr1:116269611 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003106201] Chr1:115744905 [GRCh38]
Chr1:116287526 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547017] Chr1:115725551 [GRCh38]
Chr1:116268172 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) single nucleotide variant Cardiovascular phenotype [RCV002384518]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002493859]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103980]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346518] Chr1:115702964 [GRCh38]
Chr1:116245585 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.837A>T (p.Pro279=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103943] Chr1:115717841 [GRCh38]
Chr1:116260462 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104029] Chr1:115768315 [GRCh38]
Chr1:116310936 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.354G>A (p.Lys118=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103966] Chr1:115740794 [GRCh38]
Chr1:116283415 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro) single nucleotide variant Cardiovascular phenotype [RCV002341672]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545146]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339598] Chr1:115738287 [GRCh38]
Chr1:116280908 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543708]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346457]|Inborn genetic diseases [RCV003284183] Chr1:115701304 [GRCh38]
Chr1:116243925 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547072] Chr1:115732926 [GRCh38]
Chr1:116275547 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) single nucleotide variant Cardiovascular phenotype [RCV002366199]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546119]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003145572]|not specified [RCV001824951] Chr1:115727079 [GRCh38]
Chr1:116269700 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002538488] Chr1:115705194 [GRCh38]
Chr1:116247815 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) single nucleotide variant Cardiovascular phenotype [RCV002431967]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547009]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003145593] Chr1:115701354 [GRCh38]
Chr1:116243975 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.606G>A (p.Gly202=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003103939] Chr1:115732901 [GRCh38]
Chr1:116275522 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002543675] Chr1:115701249 [GRCh38]
Chr1:116243870 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) single nucleotide variant Cardiovascular phenotype [RCV002341785]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002493871]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548585]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339620] Chr1:115738274 [GRCh38]
Chr1:116280895 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val) single nucleotide variant Cardiomyopathy [RCV001799068]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003153996]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346484] Chr1:115701305 [GRCh38]
Chr1:116243926 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546236] Chr1:115702976 [GRCh38]
Chr1:116245597 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.837A>G (p.Pro279=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104035] Chr1:115717841 [GRCh38]
Chr1:116260462 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) single nucleotide variant Cardiovascular phenotype [RCV002447390]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002546829]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346486] Chr1:115701344 [GRCh38]
Chr1:116243965 [GRCh37]
Chr1:1p13.1
likely pathogenic|uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003106215] Chr1:115738258 [GRCh38]
Chr1:116280879 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.235-8T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557551] Chr1:115744920 [GRCh38]
Chr1:116287541 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002567963] Chr1:115701244 [GRCh38]
Chr1:116243865 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=) single nucleotide variant Cardiovascular phenotype [RCV003298723]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555137]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346553] Chr1:115701382 [GRCh38]
Chr1:116244003 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.114C>A (p.Ser38=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557513] Chr1:115768428 [GRCh38]
Chr1:116311049 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.678C>T (p.Ala226=) single nucleotide variant not specified [RCV001532899] Chr1:115727051 [GRCh38]
Chr1:116269672 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-17_738-5del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560309] Chr1:115725558..115725570 [GRCh38]
Chr1:116268179..116268191 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.783+116C>A single nucleotide variant not provided [RCV001581582] Chr1:115725392 [GRCh38]
Chr1:116268013 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.681C>T (p.Ile227=) single nucleotide variant Cardiovascular phenotype [RCV002368264]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553398]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339634] Chr1:115727048 [GRCh38]
Chr1:116269669 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys) single nucleotide variant Cardiovascular phenotype [RCV002388632]|not provided [RCV001699946] Chr1:115725534 [GRCh38]
Chr1:116268155 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.-20A>G single nucleotide variant not provided [RCV001714423] Chr1:115768561 [GRCh38]
Chr1:116311182 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) single nucleotide variant Cardiovascular phenotype [RCV002377837]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002495732]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563269]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346580]|not provided [RCV001700757] Chr1:115705204 [GRCh38]
Chr1:116247825 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.939+9C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563323] Chr1:115705183 [GRCh38]
Chr1:116247804 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.897C>T (p.Pro299=) single nucleotide variant Cardiovascular phenotype [RCV002449319]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002563319]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346582] Chr1:115705234 [GRCh38]
Chr1:116247855 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys) single nucleotide variant Cardiovascular phenotype [RCV002386516]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003346667]|not provided [RCV001762932] Chr1:115701410 [GRCh38]
Chr1:116244031 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.319+1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV001780719] Chr1:115744827 [GRCh38]
Chr1:116287448 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.240G>A (p.Val80=) single nucleotide variant Cardiomyopathy [RCV001799145]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002541317]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339744] Chr1:115744907 [GRCh38]
Chr1:116287528 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu) single nucleotide variant Cardiovascular phenotype [RCV003163831]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339731]|not provided [RCV001773943] Chr1:115727037 [GRCh38]
Chr1:116269658 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.824A>T (p.Glu275Val) single nucleotide variant Cardiomyopathy [RCV001799146] Chr1:115717854 [GRCh38]
Chr1:116260475 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.802A>G (p.Ile268Val) single nucleotide variant not provided [RCV001773141] Chr1:115717876 [GRCh38]
Chr1:116260497 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.13C>G (p.His5Asp) single nucleotide variant not provided [RCV001757860] Chr1:115768529 [GRCh38]
Chr1:116311150 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.607-10A>G single nucleotide variant not provided [RCV001756852] Chr1:115727132 [GRCh38]
Chr1:116269753 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.992T>C (p.Ile331Thr) single nucleotide variant not specified [RCV001806699] Chr1:115702943 [GRCh38]
Chr1:116245564 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002592528] Chr1:115727042 [GRCh38]
Chr1:116269663 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.449G>T (p.Ser150Ile) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555285] Chr1:115738307 [GRCh38]
Chr1:116280928 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln) single nucleotide variant Cardiovascular phenotype [RCV003167227]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557843]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348632] Chr1:115705253 [GRCh38]
Chr1:116247874 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002579535] Chr1:115701292 [GRCh38]
Chr1:116243913 [GRCh37]
Chr1:1p13.1
uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2
pathogenic
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) single nucleotide variant Cardiovascular phenotype [RCV002370544]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560573]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348641] Chr1:115705269 [GRCh38]
Chr1:116247890 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557684] Chr1:115701412 [GRCh38]
Chr1:116244033 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.784-9C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545456] Chr1:115717903 [GRCh38]
Chr1:116260524 [GRCh37]
Chr1:1p13.1
likely benign|uncertain significance
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557825] Chr1:115727079 [GRCh38]
Chr1:116269700 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002482548]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550401]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339773] Chr1:115732931 [GRCh38]
Chr1:116275552 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002548703] Chr1:115768332 [GRCh38]
Chr1:116310953 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562753]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339842]|Inborn genetic diseases [RCV003289267] Chr1:115744866 [GRCh38]
Chr1:116287487 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555206] Chr1:115725533 [GRCh38]
Chr1:116268154 [GRCh37]
Chr1:1p13.1
uncertain significance
NC_000001.10:g.(?_116269603)_(116269753_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107921] Chr1:116269603..116269753 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560503] Chr1:115702947 [GRCh38]
Chr1:116245568 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.839-2A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002549041] Chr1:115705294 [GRCh38]
Chr1:116247915 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.278T>C (p.Met93Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002642000] Chr1:115744869 [GRCh38]
Chr1:116287490 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.939+5G>C single nucleotide variant Cardiovascular phenotype [RCV002370607]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002569140]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348689] Chr1:115705187 [GRCh38]
Chr1:116247808 [GRCh37]
Chr1:1p13.1
pathogenic|likely pathogenic
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu) single nucleotide variant Cardiovascular phenotype [RCV002370660]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002592575]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348722] Chr1:115702956 [GRCh38]
Chr1:116245577 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) single nucleotide variant Cardiovascular phenotype [RCV002331377]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003107868]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339777] Chr1:115768498 [GRCh38]
Chr1:116311119 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.607-17A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564401] Chr1:115727139 [GRCh38]
Chr1:116269760 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.903G>A (p.Leu301=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104148] Chr1:115705228 [GRCh38]
Chr1:116247849 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup) duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545574] Chr1:115705230..115705231 [GRCh38]
Chr1:116247851..116247852 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.939+20G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002568519] Chr1:115705172 [GRCh38]
Chr1:116247793 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe) single nucleotide variant Cardiovascular phenotype [RCV002324262]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551082]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339779] Chr1:115768511 [GRCh38]
Chr1:116311132 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002579567] Chr1:115702954 [GRCh38]
Chr1:116245575 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) single nucleotide variant Cardiovascular phenotype [RCV002386870]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492307]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002642066]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348738] Chr1:115701411 [GRCh38]
Chr1:116244032 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002492053]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562820]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348663] Chr1:115717885 [GRCh38]
Chr1:116260506 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) single nucleotide variant Cardiovascular phenotype [RCV002388969]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002571362]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348704] Chr1:115725542 [GRCh38]
Chr1:116268163 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002571267] Chr1:115768409 [GRCh38]
Chr1:116311030 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564348] Chr1:115768370 [GRCh38]
Chr1:116310991 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu) single nucleotide variant Cardiovascular phenotype [RCV002425287]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562128]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339843] Chr1:115744876 [GRCh38]
Chr1:116287497 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557885] Chr1:115768384 [GRCh38]
Chr1:116311005 [GRCh37]
Chr1:1p13.1
uncertain significance
NC_000001.10:g.(?_116243862)_(116287553_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104169] Chr1:116243862..116287553 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.235-3C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562033] Chr1:115744915 [GRCh38]
Chr1:116287536 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.888T>C (p.Thr296=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002608084] Chr1:115705243 [GRCh38]
Chr1:116247864 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1014+1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002564387] Chr1:115702920 [GRCh38]
Chr1:116245541 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002482691]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553516]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348576] Chr1:115701360 [GRCh38]
Chr1:116243981 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002555624] Chr1:115705271 [GRCh38]
Chr1:116247892 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557765] Chr1:115717843 [GRCh38]
Chr1:116260464 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002545647] Chr1:115705226 [GRCh38]
Chr1:116247847 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002552134] Chr1:115768414 [GRCh38]
Chr1:116311035 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557784] Chr1:115768520 [GRCh38]
Chr1:116311141 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547982] Chr1:115738334 [GRCh38]
Chr1:116280955 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550285] Chr1:115705235 [GRCh38]
Chr1:116247856 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.257A>G (p.His86Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557636] Chr1:115744890 [GRCh38]
Chr1:116287511 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.319+1G>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550446] Chr1:115744827 [GRCh38]
Chr1:116287448 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002557807] Chr1:115705247 [GRCh38]
Chr1:116247868 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002547985] Chr1:115727046 [GRCh38]
Chr1:116269667 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002550991] Chr1:115744861 [GRCh38]
Chr1:116287482 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002569240] Chr1:115768367 [GRCh38]
Chr1:116310988 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.231T>C (p.Leu77=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061736] Chr1:115768311 [GRCh38]
Chr1:116310932 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.645C>T (p.Asp215=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551255] Chr1:115727084 [GRCh38]
Chr1:116269705 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.319+18G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070662] Chr1:115744810 [GRCh38]
Chr1:116287431 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.939+19C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003089085] Chr1:115705173 [GRCh38]
Chr1:116247794 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.58G>T (p.Glu20Ter) single nucleotide variant not provided [RCV002224481] Chr1:115768484 [GRCh38]
Chr1:116311105 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=) single nucleotide variant Cardiovascular phenotype [RCV002398235]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003025408]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348800] Chr1:115701391 [GRCh38]
Chr1:116244012 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.606+12T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003093833] Chr1:115732889 [GRCh38]
Chr1:116275510 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.625T>C (p.Leu209=) single nucleotide variant Cardiovascular phenotype [RCV002352831]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007062]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339918] Chr1:115727104 [GRCh38]
Chr1:116269725 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-19T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070647] Chr1:115725572 [GRCh38]
Chr1:116268193 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.533-15T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003025499] Chr1:115732989 [GRCh38]
Chr1:116275610 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.711G>T (p.Leu237=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993465] Chr1:115727018 [GRCh38]
Chr1:116269639 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.532+13C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061786] Chr1:115738211 [GRCh38]
Chr1:116280832 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-16_738-5del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002560751] Chr1:115725558..115725569 [GRCh38]
Chr1:116268179..116268190 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.342G>A (p.Leu114=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002562279] Chr1:115740806 [GRCh38]
Chr1:116283427 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1014+20G>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993482] Chr1:115702901 [GRCh38]
Chr1:116245522 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.861C>T (p.Ile287=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104183] Chr1:115705270 [GRCh38]
Chr1:116247891 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.114C>T (p.Ser38=) single nucleotide variant Cardiovascular phenotype [RCV002454465]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015362]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003339928]|not provided [RCV003408134] Chr1:115768428 [GRCh38]
Chr1:116311049 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.522G>A (p.Glu174=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002993447] Chr1:115738234 [GRCh38]
Chr1:116280855 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.532+17C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002561624] Chr1:115738207 [GRCh38]
Chr1:116280828 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.210C>T (p.Phe70=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070574] Chr1:115768332 [GRCh38]
Chr1:116310953 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.957G>A (p.Glu319=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003025492] Chr1:115702978 [GRCh38]
Chr1:116245599 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.784-19T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003025416] Chr1:115717913 [GRCh38]
Chr1:116260534 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.762A>G (p.Pro254=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015309] Chr1:115725529 [GRCh38]
Chr1:116268150 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.319+20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007099] Chr1:115744808 [GRCh38]
Chr1:116287429 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.784-7C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002551315] Chr1:115717901 [GRCh38]
Chr1:116260522 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.111T>C (p.Leu37=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003088987] Chr1:115768431 [GRCh38]
Chr1:116311052 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.737+17G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003093803] Chr1:115726975 [GRCh38]
Chr1:116269596 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.319+20T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003081017] Chr1:115744808 [GRCh38]
Chr1:116287429 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.784-5T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104180] Chr1:115717899 [GRCh38]
Chr1:116260520 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.543T>G (p.Ala181=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003093793] Chr1:115732964 [GRCh38]
Chr1:116275585 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.784-11T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003061724] Chr1:115717905 [GRCh38]
Chr1:116260526 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.533-20A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002553036] Chr1:115732994 [GRCh38]
Chr1:116275615 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-16_738-15insC insertion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003007052] Chr1:115725568..115725569 [GRCh38]
Chr1:116268189..116268190 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.912G>A (p.Leu304=) single nucleotide variant Cardiomyopathy [RCV003150484]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003015292]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348795] Chr1:115705219 [GRCh38]
Chr1:116247840 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.48T>C (p.Ser16=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003070622] Chr1:115768494 [GRCh38]
Chr1:116311115 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.606+7_606+9del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003089064] Chr1:115732892..115732894 [GRCh38]
Chr1:116275513..116275515 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.38T>C (p.Phe13Ser) single nucleotide variant Cardiovascular phenotype [RCV002366406] Chr1:115768504 [GRCh38]
Chr1:116311125 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.808A>C (p.Ile270Leu) single nucleotide variant Cardiovascular phenotype [RCV002419411] Chr1:115717870 [GRCh38]
Chr1:116260491 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.808A>G (p.Ile270Val) single nucleotide variant Cardiovascular phenotype [RCV002419414] Chr1:115717870 [GRCh38]
Chr1:116260491 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.362G>T (p.Arg121Leu) single nucleotide variant Cardiovascular phenotype [RCV002452352] Chr1:115740786 [GRCh38]
Chr1:116283407 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu) single nucleotide variant Cardiovascular phenotype [RCV002387405]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003094890]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348840] Chr1:115702947 [GRCh38]
Chr1:116245568 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.196_198delinsGCA (p.Thr66Ala) indel Cardiovascular phenotype [RCV002421722] Chr1:115768344..115768346 [GRCh38]
Chr1:116310965..116310967 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.713T>C (p.Val238Ala) single nucleotide variant Cardiovascular phenotype [RCV002367497] Chr1:115727016 [GRCh38]
Chr1:116269637 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.261dup (p.Ala88fs) duplication Cardiovascular phenotype [RCV002437226] Chr1:115744885..115744886 [GRCh38]
Chr1:116287506..116287507 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.676G>T (p.Ala226Ser) single nucleotide variant Cardiovascular phenotype [RCV002369317] Chr1:115727053 [GRCh38]
Chr1:116269674 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.66G>A (p.Gly22=) single nucleotide variant Cardiovascular phenotype [RCV002367140] Chr1:115768476 [GRCh38]
Chr1:116311097 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.258T>G (p.His86Gln) single nucleotide variant Cardiovascular phenotype [RCV002452889] Chr1:115744889 [GRCh38]
Chr1:116287510 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg) single nucleotide variant Cardiovascular phenotype [RCV002437354]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003102116]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003340492] Chr1:115744879 [GRCh38]
Chr1:116287500 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.493A>G (p.Ile165Val) single nucleotide variant Cardiovascular phenotype [RCV002351300] Chr1:115738263 [GRCh38]
Chr1:116280884 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.337A>G (p.Ser113Gly) single nucleotide variant Cardiovascular phenotype [RCV002451805] Chr1:115740811 [GRCh38]
Chr1:116283432 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.16T>A (p.Leu6Met) single nucleotide variant Inborn genetic diseases [RCV003280993] Chr1:115768526 [GRCh38]
Chr1:116311147 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs) insertion Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003236758] Chr1:115744878..115744879 [GRCh38]
Chr1:116287499..116287500 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.918C>A (p.Ile306=) single nucleotide variant Cardiovascular phenotype [RCV002450037] Chr1:115705213 [GRCh38]
Chr1:116247834 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.738-13_738-5dup duplication Cardiovascular phenotype [RCV002380415] Chr1:115725557..115725558 [GRCh38]
Chr1:116268178..116268179 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter) single nucleotide variant Cardiovascular phenotype [RCV002417068] Chr1:115768343 [GRCh38]
Chr1:116310964 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.877C>A (p.Arg293=) single nucleotide variant Cardiovascular phenotype [RCV002373646] Chr1:115705254 [GRCh38]
Chr1:116247875 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=) single nucleotide variant Cardiovascular phenotype [RCV002445781] Chr1:115702924 [GRCh38]
Chr1:116245545 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.932T>G (p.Phe311Cys) single nucleotide variant Cardiovascular phenotype [RCV002371637] Chr1:115705199 [GRCh38]
Chr1:116247820 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.178G>C (p.Val60Leu) single nucleotide variant Cardiovascular phenotype [RCV002404201] Chr1:115768364 [GRCh38]
Chr1:116310985 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1092T>C (p.Asp364=) single nucleotide variant Cardiovascular phenotype [RCV002448231] Chr1:115701349 [GRCh38]
Chr1:116243970 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.925del (p.Asp309fs) deletion Cardiovascular phenotype [RCV002371415] Chr1:115705206 [GRCh38]
Chr1:116247827 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg) single nucleotide variant Cardiovascular phenotype [RCV002364131]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003098270]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003340487] Chr1:115768478 [GRCh38]
Chr1:116311099 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=) single nucleotide variant Cardiovascular phenotype [RCV002407501]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003097209]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348842] Chr1:115701382 [GRCh38]
Chr1:116244003 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.290A>C (p.Lys97Thr) single nucleotide variant Cardiovascular phenotype [RCV002439799] Chr1:115744857 [GRCh38]
Chr1:116287478 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1159G>A (p.Glu387Lys) single nucleotide variant Cardiovascular phenotype [RCV002357519] Chr1:115701282 [GRCh38]
Chr1:116243903 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.749G>A (p.Arg250His) single nucleotide variant Cardiovascular phenotype [RCV002391598] Chr1:115725542 [GRCh38]
Chr1:116268163 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.133G>A (p.Val45Ile) single nucleotide variant Cardiovascular phenotype [RCV002387676] Chr1:115768409 [GRCh38]
Chr1:116311030 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.395A>T (p.Asp132Val) single nucleotide variant Cardiovascular phenotype [RCV002375444] Chr1:115740753 [GRCh38]
Chr1:116283374 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1131_1139del (p.Glu377_Asp379del) deletion Cardiovascular phenotype [RCV002320945] Chr1:115701302..115701310 [GRCh38]
Chr1:116243923..116243931 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.320-5T>C single nucleotide variant Cardiovascular phenotype [RCV002323010] Chr1:115740833 [GRCh38]
Chr1:116283454 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.91A>G (p.Lys31Glu) single nucleotide variant Cardiovascular phenotype [RCV002378950] Chr1:115768451 [GRCh38]
Chr1:116311072 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.532+1G>A single nucleotide variant Cardiovascular phenotype [RCV002346791] Chr1:115738223 [GRCh38]
Chr1:116280844 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.753C>A (p.Arg251=) single nucleotide variant Cardiovascular phenotype [RCV002393917] Chr1:115725538 [GRCh38]
Chr1:116268159 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.340C>T (p.Leu114=) single nucleotide variant Cardiovascular phenotype [RCV002332989] Chr1:115740808 [GRCh38]
Chr1:116283429 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.930C>T (p.Asp310=) single nucleotide variant Cardiovascular phenotype [RCV002371563] Chr1:115705201 [GRCh38]
Chr1:116247822 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.823G>C (p.Glu275Gln) single nucleotide variant Cardiovascular phenotype [RCV002428031] Chr1:115717855 [GRCh38]
Chr1:116260476 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.438G>A (p.Val146=) single nucleotide variant Cardiovascular phenotype [RCV002333627] Chr1:115738318 [GRCh38]
Chr1:116280939 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala) single nucleotide variant Cardiovascular phenotype [RCV002338586] Chr1:115701245 [GRCh38]
Chr1:116243866 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.589G>T (p.Ala197Ser) single nucleotide variant Cardiovascular phenotype [RCV002355672] Chr1:115732918 [GRCh38]
Chr1:116275539 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val) single nucleotide variant Cardiovascular phenotype [RCV002428726]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003102083]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003340491] Chr1:115744882 [GRCh38]
Chr1:116287503 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.876C>T (p.Ala292=) single nucleotide variant Cardiovascular phenotype [RCV002373609] Chr1:115705255 [GRCh38]
Chr1:116247876 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1143T>C (p.Asp381=) single nucleotide variant Cardiovascular phenotype [RCV002459036] Chr1:115701298 [GRCh38]
Chr1:116243919 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.562C>T (p.His188Tyr) single nucleotide variant Cardiovascular phenotype [RCV002345067] Chr1:115732945 [GRCh38]
Chr1:116275566 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1044TGA[1] (p.Asp351del) microsatellite Cardiovascular phenotype [RCV002392630] Chr1:115701392..115701394 [GRCh38]
Chr1:116244013..116244015 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.775G>C (p.Glu259Gln) single nucleotide variant Cardiovascular phenotype [RCV002409710] Chr1:115725516 [GRCh38]
Chr1:116268137 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.362G>A (p.Arg121His) single nucleotide variant Cardiovascular phenotype [RCV002460327]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003448459] Chr1:115740786 [GRCh38]
Chr1:116283407 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.997G>T (p.Val333Leu) single nucleotide variant Cardiovascular phenotype [RCV002383017] Chr1:115702938 [GRCh38]
Chr1:116245559 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.942C>T (p.Leu314=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002970894] Chr1:115702993 [GRCh38]
Chr1:116245614 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.234+9C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002615458] Chr1:115768299 [GRCh38]
Chr1:116310920 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002815189] Chr1:115727083 [GRCh38]
Chr1:116269704 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.564C>T (p.His188=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002991741] Chr1:115732943 [GRCh38]
Chr1:116275564 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del) microsatellite Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003075847] Chr1:115701292..115701297 [GRCh38]
Chr1:116243913..116243918 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.693T>C (p.Pro231=) single nucleotide variant Cardiovascular phenotype [RCV003170641]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002947854]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003340567] Chr1:115727036 [GRCh38]
Chr1:116269657 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002904887] Chr1:115701254 [GRCh38]
Chr1:116243875 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.12T>C (p.Thr4=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003034386] Chr1:115768530 [GRCh38]
Chr1:116311151 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.744T>A (p.Thr248=) single nucleotide variant not provided [RCV002511590] Chr1:115725547 [GRCh38]
Chr1:116268168 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002638425] Chr1:115701250 [GRCh38]
Chr1:116243871 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.426T>C (p.Ile142=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002696222] Chr1:115738330 [GRCh38]
Chr1:116280951 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.320-7C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002847755] Chr1:115740835 [GRCh38]
Chr1:116283456 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.939+3G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002736776] Chr1:115705189 [GRCh38]
Chr1:116247810 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.319+2T>G single nucleotide variant Cardiovascular phenotype [RCV003367941]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003020425] Chr1:115744826 [GRCh38]
Chr1:116287447 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.839-19C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002691202] Chr1:115705311 [GRCh38]
Chr1:116247932 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.838+16C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002780899] Chr1:115717824 [GRCh38]
Chr1:116260445 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val) single nucleotide variant Cardiovascular phenotype [RCV003358108]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002636630] Chr1:115744848 [GRCh38]
Chr1:116287469 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.838+18T>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002621334] Chr1:115717822 [GRCh38]
Chr1:116260443 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.630G>A (p.Lys210=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002590840] Chr1:115727099 [GRCh38]
Chr1:116269720 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002639717] Chr1:115768396 [GRCh38]
Chr1:116311017 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.738-20T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003053290] Chr1:115725573 [GRCh38]
Chr1:116268194 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr) inversion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002912502] Chr1:115768315..115768316 [GRCh38]
Chr1:116310936..116310937 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003021598] Chr1:115744855 [GRCh38]
Chr1:116287476 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003077146] Chr1:115701301 [GRCh38]
Chr1:116243922 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.366A>G (p.Thr122=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003084684] Chr1:115740782 [GRCh38]
Chr1:116283403 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.320-3C>T single nucleotide variant Cardiovascular phenotype [RCV003377915]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002644097] Chr1:115740831 [GRCh38]
Chr1:116283452 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002644059] Chr1:115717870 [GRCh38]
Chr1:116260491 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.741C>T (p.Pro247=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002575028] Chr1:115725550 [GRCh38]
Chr1:116268171 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.107G>A (p.Ser36Asn) single nucleotide variant Inborn genetic diseases [RCV002891869] Chr1:115768435 [GRCh38]
Chr1:116311056 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.839-8T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003024527] Chr1:115705300 [GRCh38]
Chr1:116247921 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1014+14G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003082055] Chr1:115702907 [GRCh38]
Chr1:116245528 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.406G>A (p.Glu136Lys) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003023651] Chr1:115740742 [GRCh38]
Chr1:116283363 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.999G>A (p.Val333=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002701383] Chr1:115702936 [GRCh38]
Chr1:116245557 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.737+14C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002932132] Chr1:115726978 [GRCh38]
Chr1:116269599 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.739C>T (p.Pro247Ser) single nucleotide variant Inborn genetic diseases [RCV002915145] Chr1:115725552 [GRCh38]
Chr1:116268173 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.305T>A (p.Leu102His) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003039820] Chr1:115744842 [GRCh38]
Chr1:116287463 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.420+17A>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002644037] Chr1:115740711 [GRCh38]
Chr1:116283332 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.607-6T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002644281] Chr1:115727128 [GRCh38]
Chr1:116269749 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.783+19C>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002829595] Chr1:115725489 [GRCh38]
Chr1:116268110 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.606+18C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003085457] Chr1:115732883 [GRCh38]
Chr1:116275504 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.306T>G (p.Leu102=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003047230] Chr1:115744841 [GRCh38]
Chr1:116287462 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002581120] Chr1:115701295 [GRCh38]
Chr1:116243916 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.940-12T>G single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002922432] Chr1:115703007 [GRCh38]
Chr1:116245628 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.838+10C>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002962819] Chr1:115717830 [GRCh38]
Chr1:116260451 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002806370] Chr1:115701420 [GRCh38]
Chr1:116244041 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.738-7T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002628526] Chr1:115725560 [GRCh38]
Chr1:116268181 [GRCh37]
Chr1:1p13.1
benign
NM_001232.4(CASQ2):c.249C>T (p.Val83=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002670810] Chr1:115744898 [GRCh38]
Chr1:116287519 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003091855] Chr1:115732928 [GRCh38]
Chr1:116275549 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003028223] Chr1:115732969 [GRCh38]
Chr1:116275590 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002604310] Chr1:115705266 [GRCh38]
Chr1:116247887 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002605657] Chr1:115738269 [GRCh38]
Chr1:116280890 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val) single nucleotide variant Cardiovascular phenotype [RCV003294444]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003068593]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003340616] Chr1:115740759 [GRCh38]
Chr1:116283380 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.939+19C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003068646] Chr1:115705173 [GRCh38]
Chr1:116247794 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.737+1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002634308] Chr1:115726991 [GRCh38]
Chr1:116269612 [GRCh37]
Chr1:1p13.1
pathogenic
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln) single nucleotide variant Cardiovascular phenotype [RCV003171055]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003066924]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003340611] Chr1:115768427 [GRCh38]
Chr1:116311048 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.987A>G (p.Pro329=) single nucleotide variant Cardiovascular phenotype [RCV003308227]|Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002676930]|Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003348887] Chr1:115702948 [GRCh38]
Chr1:116245569 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1014+11C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002603699] Chr1:115702910 [GRCh38]
Chr1:116245531 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.607-9T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003067905] Chr1:115727131 [GRCh38]
Chr1:116269752 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002657743] Chr1:115702929 [GRCh38]
Chr1:116245550 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.15C>T (p.His5=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV002607013] Chr1:115768527 [GRCh38]
Chr1:116311148 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.420+17A>T single nucleotide variant not specified [RCV003155634] Chr1:115740711 [GRCh38]
Chr1:116283332 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.600C>G (p.Asp200Glu) single nucleotide variant Inborn genetic diseases [RCV003204586] Chr1:115732907 [GRCh38]
Chr1:116275528 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.279G>A (p.Met93Ile) single nucleotide variant Cardiovascular phenotype [RCV003176955] Chr1:115744868 [GRCh38]
Chr1:116287489 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.784G>A (p.Glu262Lys) single nucleotide variant Cardiovascular phenotype [RCV003176956] Chr1:115717894 [GRCh38]
Chr1:116260515 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.954G>C (p.Trp318Cys) single nucleotide variant Cardiovascular phenotype [RCV003171413] Chr1:115702981 [GRCh38]
Chr1:116245602 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.607-1G>A single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 2 [RCV003141188] Chr1:115727123 [GRCh38]
Chr1:116269744 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter) single nucleotide variant not provided [RCV003319750] Chr1:115701358 [GRCh38]
Chr1:116243979 [GRCh37]
Chr1:1p13.1
likely pathogenic
NM_001232.4(CASQ2):c.776A>G (p.Glu259Gly) single nucleotide variant Cardiovascular phenotype [RCV003358169] Chr1:115725515 [GRCh38]
Chr1:116268136 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.4A>G (p.Lys2Glu) single nucleotide variant Cardiovascular phenotype [RCV003358168] Chr1:115768538 [GRCh38]
Chr1:116311159 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.61G>A (p.Glu21Lys) single nucleotide variant Cardiovascular phenotype [RCV003368082] Chr1:115768481 [GRCh38]
Chr1:116311102 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.401T>G (p.Leu134Trp) single nucleotide variant Cardiovascular phenotype [RCV003368084] Chr1:115740747 [GRCh38]
Chr1:116283368 [GRCh37]
Chr1:1p13.1
uncertain significance
NM_001232.4(CASQ2):c.1084A>C (p.Ile362Leu) single nucleotide variant Cardiovascular phenotype [RCV003368085] Chr1:115701357 [GRCh38]
Chr1:116243978 [GRCh37]
Chr1:1p13.1
uncertain significance
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1
pathogenic
NM_001232.4(CASQ2):c.532+17C>T single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003875912] Chr1:115738207 [GRCh38]
Chr1:116280828 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.784-11T>C single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003877726] Chr1:115717905 [GRCh38]
Chr1:116260526 [GRCh37]
Chr1:1p13.1
likely benign
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003824676] Chr1:115701369 [GRCh38]
Chr1:116243990 [GRCh37]
Chr1:1p13.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:983
Count of miRNA genes:648
Interacting mature miRNAs:739
Transcripts:ENST00000261448, ENST00000456138, ENST00000488931
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.

Markers in Region
SHGC-155959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,245,246 - 116,245,585UniSTSGRCh37
Build 361116,046,769 - 116,047,108RGDNCBI36
Celera1114,474,067 - 114,474,406RGD
Cytogenetic Map1p13.1UniSTS
HuRef1114,103,334 - 114,103,673UniSTS
TNG Radiation Hybrid Map163266.0UniSTS
AL009800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,255,056 - 116,255,195UniSTSGRCh37
Build 361116,056,579 - 116,056,718RGDNCBI36
Celera1114,483,879 - 114,484,018RGD
Cytogenetic Map1p13.1UniSTS
HuRef1114,113,145 - 114,113,284UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 38 2 29 2
Medium 1709 2139 173 34 62 2 2615 2086 474 60 326 352 34 804 2077 1
Low 551 132 966 288 453 160 1473 32 2750 213 933 993 133 1 400 708 2 1
Below cutoff 72 620 532 267 759 266 127 18 432 98 114 80 2 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK129831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM679349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D55655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC423064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC760317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261448   ⟹   ENSP00000261448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,700,021 - 115,768,714 (-)Ensembl
RefSeq Acc Id: ENST00000488931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1115,700,021 - 115,768,884 (-)Ensembl
RefSeq Acc Id: NM_001232   ⟹   NP_001223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,700,021 - 115,768,714 (-)NCBI
GRCh371116,242,624 - 116,311,426 (-)ENTREZGENE
GRCh371116,242,624 - 116,311,426 (-)NCBI
Build 361116,044,147 - 116,112,929 (-)NCBI Archive
HuRef1114,100,712 - 114,169,492 (-)ENTREZGENE
CHM1_11116,357,421 - 116,426,262 (-)NCBI
T2T-CHM13v2.01115,707,724 - 115,776,700 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001223   ⟸   NM_001232
- Peptide Label: precursor
- UniProtKB: Q5T1D2 (UniProtKB/Swiss-Prot),   B4DIB0 (UniProtKB/Swiss-Prot),   B2R7M6 (UniProtKB/Swiss-Prot),   Q8TBW8 (UniProtKB/Swiss-Prot),   O14958 (UniProtKB/Swiss-Prot),   B4DEF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000261448   ⟸   ENST00000261448

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14958-F1-model_v2 AlphaFold O14958 1-399 view protein structure

Promoters
RGD ID:6856730
Promoter ID:EPDNEW_H1530
Type:initiation region
Name:CASQ2_1
Description:calsequestrin 2
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
GRCh381115,768,714 - 115,768,774EPDNEW
RGD ID:6850598
Promoter ID:EP73093
Type:multiple initiation site
Name:HS_CASQ2
Description:Calsequestrin 2 (cardiac muscle).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361116,112,858 - 116,112,918EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1513 AgrOrtholog
COSMIC CASQ2 COSMIC
Ensembl Genes ENSG00000118729 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261448 ENTREZGENE
  ENST00000261448.6 UniProtKB/Swiss-Prot
  ENST00000488931.2 UniProtKB/TrEMBL
Gene3D-CATH Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118729 GTEx
HGNC ID HGNC:1513 ENTREZGENE
Human Proteome Map CASQ2 Human Proteome Map
InterPro Calsequestrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calsequestrin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calsequestrin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calsequestrin_middle_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calsequestrin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:845 UniProtKB/Swiss-Prot
NCBI Gene 845 ENTREZGENE
OMIM 114251 OMIM
PANTHER CALSEQUESTRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALSEQUESTRIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Calsequestrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CASQ2 RGD, PharmGKB
PRINTS CALSEQUESTRN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CALSEQUESTRIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALSEQUESTRIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AA34QVH1_HUMAN UniProtKB/TrEMBL
  B2R7M6 ENTREZGENE
  B4DEF0 ENTREZGENE, UniProtKB/TrEMBL
  B4DIB0 ENTREZGENE
  CASQ2_HUMAN UniProtKB/Swiss-Prot
  L8EC86_HUMAN UniProtKB/TrEMBL
  O14958 ENTREZGENE
  Q5T1D2 ENTREZGENE
  Q8TBW8 ENTREZGENE
UniProt Secondary B2R7M6 UniProtKB/Swiss-Prot
  B4DIB0 UniProtKB/Swiss-Prot
  Q5T1D2 UniProtKB/Swiss-Prot
  Q8TBW8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CASQ2  calsequestrin 2  CASQ2  calsequestrin 2 (cardiac muscle)  Symbol and/or name change 5135510 APPROVED