CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) - Rat Genome Database

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Gene: CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) Homo sapiens
Analyze
Symbol: CACNB2
Name: calcium voltage-gated channel auxiliary subunit beta 2
RGD ID: 732576
HGNC Page HGNC
Description: Enables voltage-gated calcium channel activity. Contributes to high voltage-gated calcium channel activity and voltage-gated calcium channel activity involved in AV node cell action potential. Involved in calcium ion import; cardiac conduction; and positive regulation of calcium ion transport. Part of L-type voltage-gated calcium channel complex. Implicated in Brugada syndrome 4; hypertension; and hypertrophic cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAB2; CACNLB2; calcium channel voltage-dependent subunit beta 2; calcium channel, voltage-dependent, beta 2 subunit; CAVB2; FLJ23743; lambert-Eaton myasthenic syndrome antigen B; myasthenic (Lambert-Eaton) syndrome antigen B; MYSB; voltage-dependent L-type calcium channel subunit beta-2
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
GRCh38.p13 Ensembl1018,140,424 - 18,543,557 (+)EnsemblGRCh38hg38GRCh38
GRCh381018,140,424 - 18,545,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371018,429,353 - 18,832,486 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361018,469,612 - 18,870,694 (+)NCBINCBI36hg18NCBI36
Build 341018,729,966 - 18,870,044NCBI
Celera1018,116,041 - 18,517,577 (+)NCBI
Cytogenetic Map10p12.33-p12.31NCBI
HuRef1018,094,960 - 18,495,622 (+)NCBIHuRef
CHM1_11018,429,651 - 18,830,663 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylparaben  (ISO)
choline  (ISO)
clorgyline  (EXP)
clothianidin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
diethyl malate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzacamene  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
genistein  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
linsidomine  (ISO)
mercury dibromide  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
nickel atom  (EXP)
p-chloromercuribenzoic acid  (EXP)
p-menthan-3-ol  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
SB 431542  (EXP)
sodium arsenate  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
tunicamycin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:1309651   PMID:8107964   PMID:8395157   PMID:8494331   PMID:8889549   PMID:9252229   PMID:9461395   PMID:9594024   PMID:9757060   PMID:10066897   PMID:10441130   PMID:10465427  
PMID:10567342   PMID:10623591   PMID:12042350   PMID:12477932   PMID:12719232   PMID:14623965   PMID:14702039   PMID:14762176   PMID:15339916   PMID:15342556   PMID:16344560   PMID:16385451  
PMID:17224476   PMID:17525370   PMID:18464913   PMID:18519826   PMID:18676988   PMID:19106618   PMID:19197348   PMID:19241460   PMID:19358333   PMID:19430479   PMID:20025708   PMID:20201926  
PMID:20301690   PMID:20379614   PMID:20386566   PMID:20414254   PMID:20479155   PMID:20677014   PMID:20817017   PMID:21045733   PMID:21156931   PMID:21873635   PMID:21909110   PMID:21909115  
PMID:21963141   PMID:22090166   PMID:23251661   PMID:23319000   PMID:23414114   PMID:23453885   PMID:23704328   PMID:23974872   PMID:24752249   PMID:24901509   PMID:25056061   PMID:25107449  
PMID:25533460   PMID:25798074   PMID:25966706   PMID:28130356   PMID:28514442   PMID:28611215   PMID:28739256   PMID:29982197   PMID:30150369   PMID:30395415   PMID:30575818   PMID:30744588  
PMID:31439644   PMID:31887354   PMID:32158010   PMID:32296183  


Genomics

Comparative Map Data
CACNB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1018,140,424 - 18,543,557 (+)EnsemblGRCh38hg38GRCh38
GRCh381018,140,424 - 18,545,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371018,429,353 - 18,832,486 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361018,469,612 - 18,870,694 (+)NCBINCBI36hg18NCBI36
Build 341018,729,966 - 18,870,044NCBI
Celera1018,116,041 - 18,517,577 (+)NCBI
Cytogenetic Map10p12.33-p12.31NCBI
HuRef1018,094,960 - 18,495,622 (+)NCBIHuRef
CHM1_11018,429,651 - 18,830,663 (+)NCBICHM1_1
Cacnb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39214,608,672 - 14,993,622 (+)NCBIGRCm39mm39
GRCm39 Ensembl214,607,899 - 14,992,719 (+)Ensembl
GRCm38214,603,861 - 14,988,811 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl214,603,088 - 14,987,908 (+)EnsemblGRCm38mm10GRCm38
MGSCv37214,525,933 - 14,908,560 (+)NCBIGRCm37mm9NCBIm37
MGSCv36214,522,060 - 14,904,687 (+)NCBImm8
Celera214,505,146 - 14,888,354 (+)NCBICelera
Cytogenetic Map2A2NCBI
cM Map210.7NCBI
Cacnb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21777,564,630 - 77,910,000 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1777,564,460 - 77,909,106 (+)Ensembl
Rnor_6.01781,673,862 - 82,019,219 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1781,798,756 - 82,017,682 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01783,418,158 - 83,762,100 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41788,832,905 - 89,078,870 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11788,864,078 - 89,089,703 (+)NCBI
Celera1776,999,835 - 77,240,592 (+)NCBICelera
Cytogenetic Map17q12.3NCBI
Cacnb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554299,644,053 - 9,966,175 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554299,642,725 - 9,966,175 (-)NCBIChiLan1.0ChiLan1.0
CACNB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11018,915,315 - 19,195,226 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1018,795,832 - 19,195,226 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01018,459,528 - 18,862,495 (+)NCBIMhudiblu_PPA_v0panPan3
CACNB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1218,537,100 - 18,787,728 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl218,538,620 - 18,902,286 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha215,637,443 - 16,012,086 (-)NCBI
ROS_Cfam_1.0218,828,779 - 19,204,759 (-)NCBI
UMICH_Zoey_3.1216,027,565 - 16,402,179 (-)NCBI
UNSW_CanFamBas_1.0216,863,689 - 17,237,595 (-)NCBI
UU_Cfam_GSD_1.0217,483,280 - 17,857,968 (-)NCBI
Cacnb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934418,664,779 - 19,007,975 (+)NCBI
SpeTri2.0NW_0049365208,951,994 - 9,164,039 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1044,421,666 - 44,885,424 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11044,321,954 - 44,887,410 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21049,465,655 - 49,626,095 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CACNB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1918,075,436 - 18,470,985 (+)NCBI
ChlSab1.1 Ensembl918,332,165 - 18,469,617 (+)Ensembl
Vero_WHO_p1.0NW_02366605123,719,856 - 24,128,137 (+)NCBI
Cacnb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247969,502,132 - 9,858,836 (-)NCBI

Position Markers
D10S548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,721,292 - 18,721,437UniSTSGRCh37
GRCh371018,721,280 - 18,721,431UniSTSGRCh37
GRCh371018,721,280 - 18,721,323UniSTSGRCh37
Build 361018,761,298 - 18,761,443RGDNCBI36
Celera1018,408,158 - 18,408,307UniSTS
Celera1018,408,158 - 18,408,201UniSTS
Celera1018,408,170 - 18,408,313RGD
Cytogenetic Map10p12UniSTS
Cytogenetic Map10p14-p12UniSTS
HuRef1018,385,994 - 18,386,139UniSTS
HuRef1018,386,006 - 18,386,145UniSTS
HuRef1018,385,994 - 18,386,037UniSTS
Marshfield Genetic Map1045.7UniSTS
Marshfield Genetic Map1045.7RGD
Genethon Genetic Map1043.4UniSTS
TNG Radiation Hybrid Map109800.0UniSTS
deCODE Assembly Map1043.4UniSTS
Stanford-G3 RH Map10863.0UniSTS
GeneMap99-GB4 RH Map10119.58UniSTS
Whitehead-RH Map10124.9UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10249.3UniSTS
GeneMap99-G3 RH Map10863.0UniSTS
SHGC-30313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,460,343 - 18,460,441UniSTSGRCh37
Build 361018,500,349 - 18,500,447RGDNCBI36
Celera1018,146,781 - 18,146,879RGD
Cytogenetic Map10p12UniSTS
HuRef1018,125,702 - 18,125,800UniSTS
Stanford-G3 RH Map10899.0UniSTS
GeneMap99-GB4 RH Map10115.21UniSTS
Whitehead-RH Map10114.9UniSTS
NCBI RH Map10249.3UniSTS
GeneMap99-G3 RH Map10899.0UniSTS
STS-S60415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,829,609 - 18,829,852UniSTSGRCh37
Build 361018,869,615 - 18,869,858RGDNCBI36
Celera1018,516,494 - 18,516,737RGD
Cytogenetic Map10p12UniSTS
HuRef1018,494,539 - 18,494,782UniSTS
GeneMap99-GB4 RH Map10122.09UniSTS
NCBI RH Map10249.3UniSTS
G15938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,829,095 - 18,829,328UniSTSGRCh37
Build 361018,869,101 - 18,869,334RGDNCBI36
Celera1018,515,982 - 18,516,213RGD
Cytogenetic Map10p12UniSTS
HuRef1018,494,024 - 18,494,258UniSTS
RH103864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,441,516 - 18,441,636UniSTSGRCh37
Build 361018,481,522 - 18,481,642RGDNCBI36
Celera1018,127,951 - 18,128,071RGD
Cytogenetic Map10p12UniSTS
HuRef1018,106,877 - 18,106,997UniSTS
GeneMap99-GB4 RH Map10115.21UniSTS
SHGC-84814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,578,570 - 18,578,779UniSTSGRCh37
Build 361018,618,576 - 18,618,785RGDNCBI36
Celera1018,265,479 - 18,265,688RGD
Cytogenetic Map10p12UniSTS
HuRef1018,243,342 - 18,243,551UniSTS
TNG Radiation Hybrid Map109680.0UniSTS
RH120624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,448,860 - 18,449,203UniSTSGRCh37
Build 361018,488,866 - 18,489,209RGDNCBI36
Celera1018,135,296 - 18,135,639RGD
Cytogenetic Map10p12UniSTS
HuRef1018,114,219 - 18,114,562UniSTS
TNG Radiation Hybrid Map109614.0UniSTS
D10S2318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,624,591 - 18,624,809UniSTSGRCh37
Build 361018,664,597 - 18,664,815RGDNCBI36
Celera1018,311,504 - 18,311,722RGD
Cytogenetic Map10p12UniSTS
HuRef1018,289,366 - 18,289,580UniSTS
D10S2356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,828,466 - 18,828,624UniSTSGRCh37
Build 361018,868,472 - 18,868,630RGDNCBI36
Celera1018,515,354 - 18,515,512RGD
Cytogenetic Map10p12UniSTS
HuRef1018,493,397 - 18,493,555UniSTS
Stanford-G3 RH Map10868.0UniSTS
NCBI RH Map10244.6UniSTS
GeneMap99-G3 RH Map10868.0UniSTS
SHGC-149805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,741,818 - 18,742,115UniSTSGRCh37
Build 361018,781,824 - 18,782,121RGDNCBI36
Celera1018,428,698 - 18,428,995RGD
Cytogenetic Map10p12UniSTS
HuRef1018,406,770 - 18,407,067UniSTS
TNG Radiation Hybrid Map109740.0UniSTS
SHGC-154459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,742,237 - 18,742,507UniSTSGRCh37
Build 361018,782,243 - 18,782,513RGDNCBI36
Celera1018,429,117 - 18,429,387RGD
Cytogenetic Map10p12UniSTS
HuRef1018,407,189 - 18,407,459UniSTS
TNG Radiation Hybrid Map109743.0UniSTS
RH17936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,753,111 - 18,753,234UniSTSGRCh37
Build 361018,793,117 - 18,793,240RGDNCBI36
Celera1018,439,989 - 18,440,112RGD
Cytogenetic Map10p12UniSTS
HuRef1018,418,061 - 18,418,184UniSTS
GeneMap99-GB4 RH Map10119.48UniSTS
NCBI RH Map10249.3UniSTS
SHGC-35043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,482,743 - 18,482,842UniSTSGRCh37
Build 361018,522,749 - 18,522,848RGDNCBI36
Celera1018,169,188 - 18,169,287RGD
Cytogenetic Map10p12UniSTS
HuRef1018,148,042 - 18,148,141UniSTS
GeneMap99-G3 RH Map10863.0UniSTS
RH44603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,482,601 - 18,482,771UniSTSGRCh37
Build 361018,522,607 - 18,522,777RGDNCBI36
Celera1018,169,046 - 18,169,216RGD
Cytogenetic Map10p12UniSTS
HuRef1018,147,900 - 18,148,070UniSTS
GeneMap99-GB4 RH Map10129.2UniSTS
A008O21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371018,753,152 - 18,753,350UniSTSGRCh37
Build 361018,793,158 - 18,793,356RGDNCBI36
Celera1018,440,030 - 18,440,228RGD
Cytogenetic Map10p12UniSTS
HuRef1018,418,102 - 18,418,300UniSTS
GeneMap99-GB4 RH Map10122.09UniSTS
NCBI RH Map10249.3UniSTS
RH80031  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1p36.12-p35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23UniSTS
L18506  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
D10S548  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12UniSTS
Stanford-G3 RH Map10863.0UniSTS
GeneMap99-G3 RH Map10863.0UniSTS
D10S548  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12UniSTS
TNG Radiation Hybrid Map109800.0UniSTS
GeneMap99-GB4 RH Map10119.58UniSTS
NCBI RH Map10249.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3785
Count of miRNA genes:845
Interacting mature miRNAs:990
Transcripts:ENST00000282343, ENST00000324631, ENST00000352115, ENST00000377315, ENST00000377319, ENST00000377328, ENST00000377329, ENST00000377331, ENST00000396576, ENST00000467034, ENST00000468177, ENST00000498816
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 1531 768 316 114 425 961 1463 23 405 24 26 399
Low 829 1448 1340 568 946 409 3259 615 2208 331 904 1445 162 1154 1817 2
Below cutoff 71 762 66 53 872 54 668 615 58 59 135 136 9 24 572 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF137376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF137377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF285239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF423189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF423190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF423191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF423192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF465485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL119895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL599294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL600557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY393858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY393859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY393860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY393861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY393862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY393863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY675091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY675092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM312516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP311576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB235418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC307859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC352526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000282343   ⟹   ENSP00000282343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,958 - 18,540,763 (+)Ensembl
RefSeq Acc Id: ENST00000324631   ⟹   ENSP00000320025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,424 - 18,543,557 (+)Ensembl
RefSeq Acc Id: ENST00000352115   ⟹   ENSP00000344474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,737 - 18,539,724 (+)Ensembl
RefSeq Acc Id: ENST00000377315   ⟹   ENSP00000366532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,400,575 - 18,539,724 (+)Ensembl
RefSeq Acc Id: ENST00000377319   ⟹   ENSP00000366536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,261,080 - 18,539,731 (+)Ensembl
RefSeq Acc Id: ENST00000377328   ⟹   ENSP00000366545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,737 - 18,539,724 (+)Ensembl
RefSeq Acc Id: ENST00000377329   ⟹   ENSP00000366546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,340,709 - 18,543,557 (+)Ensembl
RefSeq Acc Id: ENST00000377331   ⟹   ENSP00000366548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,261,211 - 18,539,705 (+)Ensembl
RefSeq Acc Id: ENST00000396576   ⟹   ENSP00000379821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,260,769 - 18,541,869 (+)Ensembl
RefSeq Acc Id: ENST00000467034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,792 - 18,182,107 (+)Ensembl
RefSeq Acc Id: ENST00000468177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,747 - 18,151,269 (+)Ensembl
RefSeq Acc Id: ENST00000498816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,340,717 - 18,498,793 (+)Ensembl
RefSeq Acc Id: ENST00000612134   ⟹   ENSP00000480563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,340,927 - 18,541,862 (+)Ensembl
RefSeq Acc Id: ENST00000612743   ⟹   ENSP00000478676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,340,922 - 18,539,730 (+)Ensembl
RefSeq Acc Id: ENST00000615785   ⟹   ENSP00000480260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,260,769 - 18,541,862 (+)Ensembl
RefSeq Acc Id: ENST00000617363   ⟹   ENSP00000479756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,260,769 - 18,541,862 (+)Ensembl
RefSeq Acc Id: ENST00000643096   ⟹   ENSP00000494209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,813 - 18,539,692 (+)Ensembl
RefSeq Acc Id: ENST00000643330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,400,687 - 18,520,075 (+)Ensembl
RefSeq Acc Id: ENST00000644004   ⟹   ENSP00000495509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,881 - 18,527,663 (+)Ensembl
RefSeq Acc Id: ENST00000645287   ⟹   ENSP00000496203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,140,813 - 18,539,724 (+)Ensembl
RefSeq Acc Id: ENST00000647168   ⟹   ENSP00000495854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,400,676 - 18,539,733 (+)Ensembl
RefSeq Acc Id: ENST00000650685   ⟹   ENSP00000498460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,400,634 - 18,540,600 (+)Ensembl
RefSeq Acc Id: ENST00000651330   ⟹   ENSP00000498457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,400,676 - 18,541,063 (+)Ensembl
RefSeq Acc Id: ENST00000651468   ⟹   ENSP00000498352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,401,963 - 18,540,325 (+)Ensembl
RefSeq Acc Id: ENST00000651896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,261,211 - 18,319,647 (+)Ensembl
RefSeq Acc Id: ENST00000651928   ⟹   ENSP00000499177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,400,707 - 18,541,057 (+)Ensembl
RefSeq Acc Id: ENST00000652391   ⟹   ENSP00000498938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,366,906 - 18,540,275 (+)Ensembl
RefSeq Acc Id: ENST00000652478   ⟹   ENSP00000498812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1018,400,689 - 18,541,757 (+)Ensembl
RefSeq Acc Id: NM_000724   ⟹   NP_000715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,260,722 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,589,590 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,549,527 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167945   ⟹   NP_001161417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,424 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,429,787 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330060   ⟹   NP_001316989
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,260,722 - 18,543,557 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201570   ⟹   NP_963864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,400,575 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,729,519 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,689,457 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201571   ⟹   NP_963865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,424 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,469,816 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,429,787 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201572   ⟹   NP_963866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,424 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,469,816 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,429,787 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201590   ⟹   NP_963884
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,340,709 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,669,620 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,629,551 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201593   ⟹   NP_963887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,424 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,469,612 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,429,651 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201596   ⟹   NP_963890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,424 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,469,612 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,429,651 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201597   ⟹   NP_963891
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,424 - 18,543,557 (+)NCBI
GRCh371018,429,373 - 18,830,688 (+)NCBI
Build 361018,469,612 - 18,870,694 (+)NCBI Archive
HuRef1018,094,960 - 18,495,622 (+)ENTREZGENE
CHM1_11018,429,651 - 18,830,663 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252588   ⟹   XP_005252645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,400,575 - 18,545,881 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252591   ⟹   XP_005252648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,506,489 - 18,545,881 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717502   ⟹   XP_006717565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,366,760 - 18,545,881 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519659   ⟹   XP_011517961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,340,685 - 18,545,881 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016625   ⟹   XP_016872114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,400,668 - 18,545,881 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001747198
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,560 - 18,545,881 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000715 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161417 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316989 (Get FASTA)   NCBI Sequence Viewer  
  NP_963864 (Get FASTA)   NCBI Sequence Viewer  
  NP_963865 (Get FASTA)   NCBI Sequence Viewer  
  NP_963866 (Get FASTA)   NCBI Sequence Viewer  
  NP_963884 (Get FASTA)   NCBI Sequence Viewer  
  NP_963887 (Get FASTA)   NCBI Sequence Viewer  
  NP_963890 (Get FASTA)   NCBI Sequence Viewer  
  NP_963891 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252645 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252648 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717565 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517961 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872114 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB51370 (Get FASTA)   NCBI Sequence Viewer  
  AAB53332 (Get FASTA)   NCBI Sequence Viewer  
  AAD33729 (Get FASTA)   NCBI Sequence Viewer  
  AAD33730 (Get FASTA)   NCBI Sequence Viewer  
  AAG01473 (Get FASTA)   NCBI Sequence Viewer  
  AAI36410 (Get FASTA)   NCBI Sequence Viewer  
  AAK16994 (Get FASTA)   NCBI Sequence Viewer  
  AAL16948 (Get FASTA)   NCBI Sequence Viewer  
  AAL16949 (Get FASTA)   NCBI Sequence Viewer  
  AAL16950 (Get FASTA)   NCBI Sequence Viewer  
  AAL16951 (Get FASTA)   NCBI Sequence Viewer  
  AAL73495 (Get FASTA)   NCBI Sequence Viewer  
  AAQ97606 (Get FASTA)   NCBI Sequence Viewer  
  AAQ97607 (Get FASTA)   NCBI Sequence Viewer  
  AAQ97608 (Get FASTA)   NCBI Sequence Viewer  
  AAQ97609 (Get FASTA)   NCBI Sequence Viewer  
  AAQ97610 (Get FASTA)   NCBI Sequence Viewer  
  AAQ97611 (Get FASTA)   NCBI Sequence Viewer  
  AAV49501 (Get FASTA)   NCBI Sequence Viewer  
  AAV49502 (Get FASTA)   NCBI Sequence Viewer  
  BAD92154 (Get FASTA)   NCBI Sequence Viewer  
  BAH11608 (Get FASTA)   NCBI Sequence Viewer  
  BAH11631 (Get FASTA)   NCBI Sequence Viewer  
  BAH11979 (Get FASTA)   NCBI Sequence Viewer  
  BAH12366 (Get FASTA)   NCBI Sequence Viewer  
  BAH13158 (Get FASTA)   NCBI Sequence Viewer  
  EAW86193 (Get FASTA)   NCBI Sequence Viewer  
  EAW86194 (Get FASTA)   NCBI Sequence Viewer  
  EAW86195 (Get FASTA)   NCBI Sequence Viewer  
  EAW86196 (Get FASTA)   NCBI Sequence Viewer  
  EAW86197 (Get FASTA)   NCBI Sequence Viewer  
  Q08289 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_963890   ⟸   NM_201596
- Peptide Label: isoform 2
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963887   ⟸   NM_201593
- Peptide Label: isoform 5
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963891   ⟸   NM_201597
- Peptide Label: isoform 4
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963865   ⟸   NM_201571
- Peptide Label: isoform 6
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161417   ⟸   NM_001167945
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_963866   ⟸   NM_201572
- Peptide Label: isoform 8
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000715   ⟸   NM_000724
- Peptide Label: isoform 1
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot),   Q59H42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_963884   ⟸   NM_201590
- Peptide Label: isoform 3
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963864   ⟸   NM_201570
- Peptide Label: isoform 7
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot),   Q5VVH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252645   ⟸   XM_005252588
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005252648   ⟸   XM_005252591
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006717565   ⟸   XM_006717502
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011517961   ⟸   XM_011519659
- Peptide Label: isoform X2
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872114   ⟸   XM_017016625
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001316989   ⟸   NM_001330060
- Peptide Label: isoform 10
- UniProtKB: Q08289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000282343   ⟸   ENST00000282343
RefSeq Acc Id: ENSP00000498460   ⟸   ENST00000650685
RefSeq Acc Id: ENSP00000480563   ⟸   ENST00000612134
RefSeq Acc Id: ENSP00000498352   ⟸   ENST00000651468
RefSeq Acc Id: ENSP00000499177   ⟸   ENST00000651928
RefSeq Acc Id: ENSP00000498457   ⟸   ENST00000651330
RefSeq Acc Id: ENSP00000366532   ⟸   ENST00000377315
RefSeq Acc Id: ENSP00000366536   ⟸   ENST00000377319
RefSeq Acc Id: ENSP00000366546   ⟸   ENST00000377329
RefSeq Acc Id: ENSP00000366545   ⟸   ENST00000377328
RefSeq Acc Id: ENSP00000366548   ⟸   ENST00000377331
RefSeq Acc Id: ENSP00000478676   ⟸   ENST00000612743
RefSeq Acc Id: ENSP00000320025   ⟸   ENST00000324631
RefSeq Acc Id: ENSP00000498812   ⟸   ENST00000652478
RefSeq Acc Id: ENSP00000498938   ⟸   ENST00000652391
RefSeq Acc Id: ENSP00000480260   ⟸   ENST00000615785
RefSeq Acc Id: ENSP00000344474   ⟸   ENST00000352115
RefSeq Acc Id: ENSP00000479756   ⟸   ENST00000617363
RefSeq Acc Id: ENSP00000494209   ⟸   ENST00000643096
RefSeq Acc Id: ENSP00000495509   ⟸   ENST00000644004
RefSeq Acc Id: ENSP00000496203   ⟸   ENST00000645287
RefSeq Acc Id: ENSP00000379821   ⟸   ENST00000396576
RefSeq Acc Id: ENSP00000495854   ⟸   ENST00000647168
Protein Domains
GuKc   SH3

Promoters
RGD ID:7217105
Promoter ID:EPDNEW_H14299
Type:initiation region
Name:CACNB2_4
Description:calcium voltage-gated channel auxiliary subunit beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14300  EPDNEW_H14302  EPDNEW_H14303  EPDNEW_H14301  EPDNEW_H14304  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,736 - 18,140,796EPDNEW
RGD ID:7217109
Promoter ID:EPDNEW_H14300
Type:initiation region
Name:CACNB2_2
Description:calcium voltage-gated channel auxiliary subunit beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14299  EPDNEW_H14302  EPDNEW_H14303  EPDNEW_H14301  EPDNEW_H14304  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,140,844 - 18,140,904EPDNEW
RGD ID:7217115
Promoter ID:EPDNEW_H14301
Type:initiation region
Name:CACNB2_3
Description:calcium voltage-gated channel auxiliary subunit beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14299  EPDNEW_H14300  EPDNEW_H14302  EPDNEW_H14303  EPDNEW_H14304  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,260,738 - 18,260,798EPDNEW
RGD ID:7217111
Promoter ID:EPDNEW_H14302
Type:initiation region
Name:CACNB2_5
Description:calcium voltage-gated channel auxiliary subunit beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14299  EPDNEW_H14300  EPDNEW_H14303  EPDNEW_H14301  EPDNEW_H14304  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,340,764 - 18,340,824EPDNEW
RGD ID:7217113
Promoter ID:EPDNEW_H14303
Type:initiation region
Name:CACNB2_1
Description:calcium voltage-gated channel auxiliary subunit beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14299  EPDNEW_H14300  EPDNEW_H14302  EPDNEW_H14301  EPDNEW_H14304  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,400,551 - 18,400,611EPDNEW
RGD ID:7217117
Promoter ID:EPDNEW_H14304
Type:initiation region
Name:CACNB2_6
Description:calcium voltage-gated channel auxiliary subunit beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14299  EPDNEW_H14300  EPDNEW_H14302  EPDNEW_H14303  EPDNEW_H14301  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381018,400,976 - 18,401,036EPDNEW
RGD ID:6787426
Promoter ID:HG_KWN:8771
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_201570
Position:
Human AssemblyChrPosition (strand)Source
Build 361018,729,321 - 18,729,972 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln) single nucleotide variant Brugada syndrome 4 [RCV000542174]|Cardiovascular phenotype [RCV000619491] Chr10:18500840 [GRCh38]
Chr10:18789769 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.828T>A (p.Asp276Glu) single nucleotide variant not provided [RCV001507779] Chr10:18518359 [GRCh38]
Chr10:18807288 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys) single nucleotide variant Autism spectrum disorder [RCV000656707] Chr10:18150970 [GRCh38]
Chr10:18439899 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.333+9G>C single nucleotide variant Brugada syndrome 4 [RCV000528255] Chr10:18402052 [GRCh38]
Chr10:18690981 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.805-3C>T single nucleotide variant Brugada syndrome 4 [RCV001415208]|not provided [RCV000547960] Chr10:18518333 [GRCh38]
Chr10:18807262 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) single nucleotide variant Brugada syndrome 4 [RCV000010155] Chr10:18539345 [GRCh38]
Chr10:18828274 [GRCh37]
Chr10:10p12.31
pathogenic
GRCh38/hg38 10p12.33-12.31(chr10:18289967-19647340)x3 copy number gain See cases [RCV000051624] Chr10:18289967..19647340 [GRCh38]
Chr10:18578896..19936269 [GRCh37]
Chr10:18618902..19976275 [NCBI36]
Chr10:10p12.33-12.31
uncertain significance
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31
pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2
pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
NM_201590.2(CACNB2):c.292G>A (p.Glu98Lys) single nucleotide variant Malignant melanoma [RCV000068879] Chr10:18498475 [GRCh38]
Chr10:18787404 [GRCh37]
Chr10:18827410 [NCBI36]
Chr10:10p12.31
not provided
NM_201590.2(CACNB2):c.1750G>A (p.Asp584Asn) single nucleotide variant Malignant melanoma [RCV000062020] Chr10:18539653 [GRCh38]
Chr10:18828582 [GRCh37]
Chr10:18868588 [NCBI36]
Chr10:10p12.31
not provided
NM_201590.2(CACNB2):c.52-26519T>A single nucleotide variant Lung cancer [RCV000108883] Chr10:18375405 [GRCh38]
Chr10:18664334 [GRCh37]
Chr10:10p12.32
uncertain significance
NM_201590.2(CACNB2):c.172-35534C>A single nucleotide variant Lung cancer [RCV000108884] Chr10:18462821 [GRCh38]
Chr10:18751750 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201590.2(CACNB2):c.172-17865T>C single nucleotide variant Lung cancer [RCV000108885] Chr10:18480490 [GRCh38]
Chr10:18769419 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.121-4T>G single nucleotide variant Short QT Syndrome 5 [RCV000415639]|not provided [RCV000874573]|not specified [RCV000124106] Chr10:18150879 [GRCh38]
Chr10:18439808 [GRCh37]
Chr10:10p12.33
benign|uncertain significance
NM_201596.3(CACNB2):c.213+110350T>G single nucleotide variant not specified [RCV000124107] Chr10:18261325 [GRCh38]
Chr10:18550254 [GRCh37]
Chr10:10p12.33
benign
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) single nucleotide variant Brugada syndrome 4 [RCV000205522]|Cardiovascular phenotype [RCV000621934]|not provided [RCV000587534]|not specified [RCV000124108] Chr10:18539259 [GRCh38]
Chr10:18828188 [GRCh37]
Chr10:10p12.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) single nucleotide variant Brugada syndrome 4 [RCV000469061]|Cardiovascular phenotype [RCV000241586]|not specified [RCV000124109] Chr10:18539301 [GRCh38]
Chr10:18828230 [GRCh37]
Chr10:10p12.31
benign|likely benign|uncertain significance
NM_201596.3(CACNB2):c.1785C>T (p.His595=) single nucleotide variant Brugada syndrome 4 [RCV000206606]|Cardiovascular phenotype [RCV000620127]|not provided [RCV000585972]|not specified [RCV000124110] Chr10:18539526 [GRCh38]
Chr10:18828455 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu) single nucleotide variant Brugada syndrome 4 [RCV000860347]|Cardiovascular phenotype [RCV000253056]|not specified [RCV000124111] Chr10:18539706 [GRCh38]
Chr10:18828635 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.-42C>A single nucleotide variant not specified [RCV000170860] Chr10:18140695 [GRCh38]
Chr10:18429624 [GRCh37]
Chr10:10p12.33
benign
NM_201596.3(CACNB2):c.-31G>A single nucleotide variant not specified [RCV000170861] Chr10:18140706 [GRCh38]
Chr10:18429635 [GRCh37]
Chr10:10p12.33
benign
NM_201596.3(CACNB2):c.121-4_121-3insG insertion Cardiac arrhythmia [RCV000170852] Chr10:18150879..18150880 [GRCh38]
Chr10:18439808..18439809 [GRCh37]
Chr10:10p12.33
benign
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) single nucleotide variant Brugada syndrome 4 [RCV000474395]|Cardiovascular phenotype [RCV000617740]|not specified [RCV000170856] Chr10:18518939 [GRCh38]
Chr10:18807868 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.209G>A (p.Arg70His) single nucleotide variant not provided [RCV000170853] Chr10:18150971 [GRCh38]
Chr10:18439900 [GRCh37]
Chr10:10p12.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.213+110332G>C single nucleotide variant not provided [RCV000170854] Chr10:18261307 [GRCh38]
Chr10:18550236 [GRCh37]
Chr10:10p12.33
likely benign|uncertain significance
NM_000724.3(CACNB2):c.1041+1_1041+4dupGTAA duplication Cardiac arrhythmia [RCV000170857]|Long QT syndrome [RCV000208344] Chr10:18534228..18534231 [GRCh38]
Chr10:18823157..18823160 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) single nucleotide variant Brugada syndrome 4 [RCV000703877]|Cardiomyopathy [RCV000852603]|not provided [RCV000170858] Chr10:18539443 [GRCh38]
Chr10:18828372 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys) single nucleotide variant Brugada syndrome 4 [RCV000461914]|Cardiovascular phenotype [RCV000620280]|not specified [RCV000170859] Chr10:18539716 [GRCh38]
Chr10:18828645 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.-30G>A single nucleotide variant not specified [RCV000170862] Chr10:18140707 [GRCh38]
Chr10:18429636 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.133G>A (p.Gly45Arg) single nucleotide variant not provided [RCV000170863] Chr10:18150895 [GRCh38]
Chr10:18439824 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.804+665G>A single nucleotide variant Brugada syndrome [RCV000590907]|not provided [RCV000170866] Chr10:18515034 [GRCh38]
Chr10:18803963 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu) single nucleotide variant not provided [RCV000170867] Chr10:18538188 [GRCh38]
Chr10:18827117 [GRCh37]
Chr10:10p12.31
likely pathogenic
NM_201596.3(CACNB2):c.1553A>C (p.Glu518Ala) single nucleotide variant Brugada syndrome 4 [RCV000536080]|Cardiovascular phenotype [RCV000244354]|not specified [RCV000170871] Chr10:18539294 [GRCh38]
Chr10:18828223 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) single nucleotide variant Brugada syndrome 4 [RCV001085407]|Cardiovascular phenotype [RCV000618110]|not provided [RCV000170872] Chr10:18539333 [GRCh38]
Chr10:18828262 [GRCh37]
Chr10:10p12.31
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) single nucleotide variant Brugada syndrome 4 [RCV000458519]|Cardiomyopathy [RCV000852602]|Cardiovascular phenotype [RCV000245105]|not specified [RCV000170874] Chr10:18539411 [GRCh38]
Chr10:18828340 [GRCh37]
Chr10:10p12.31
benign|likely benign|uncertain significance
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) single nucleotide variant Brugada syndrome 4 [RCV001079557]|not provided [RCV000170875]|not specified [RCV000185501] Chr10:18539437 [GRCh38]
Chr10:18828366 [GRCh37]
Chr10:10p12.31
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.1921G>A (p.Val641Met) single nucleotide variant not provided [RCV000170877] Chr10:18539662 [GRCh38]
Chr10:18828591 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.17del (p.Met6fs) deletion not specified [RCV000170879] Chr10:18140753 [GRCh38]
Chr10:18429682 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr) single nucleotide variant not provided [RCV000170880] Chr10:18534144 [GRCh38]
Chr10:18823073 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) single nucleotide variant Brugada syndrome 4 [RCV001081634]|not provided [RCV000170881] Chr10:18539557 [GRCh38]
Chr10:18828486 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) single nucleotide variant Brugada syndrome 4 [RCV000802497]|Short QT Syndrome 5 [RCV000415682]|not provided [RCV000170882] Chr10:18539582 [GRCh38]
Chr10:18828511 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.53C>T (p.Ala18Val) single nucleotide variant not provided [RCV000170883] Chr10:18140789 [GRCh38]
Chr10:18429718 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.214-60966C>T single nucleotide variant Brugada syndrome 4 [RCV000144246] Chr10:18340958 [GRCh38]
Chr10:18629887 [GRCh37]
Chr10:10p12.32
pathogenic
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu) single nucleotide variant not provided [RCV000170865] Chr10:18506542 [GRCh38]
Chr10:18795471 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1499G>A (p.Gly500Asp) single nucleotide variant not provided [RCV000170868] Chr10:18539240 [GRCh38]
Chr10:18828169 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr) single nucleotide variant Brugada syndrome 4 [RCV001088490]|Cardiovascular phenotype [RCV000620970]|not provided [RCV000170870] Chr10:18539263 [GRCh38]
Chr10:18828192 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.100G>T (p.Ala34Ser) single nucleotide variant not provided [RCV000170878] Chr10:18140836 [GRCh38]
Chr10:18429765 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) single nucleotide variant Brugada syndrome 4 [RCV000693237]|Cardiovascular phenotype [RCV000245027]|Paroxysmal familial ventricular fibrillation [RCV000148447]|Sudden unexplained death [RCV000999569]|not provided [RCV000766681]|not specified [RCV000437912] Chr10:18498401 [GRCh38]
Chr10:18787330 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) single nucleotide variant Brugada syndrome 4 [RCV001079387]|Brugada syndrome [RCV000148448]|Cardiomyopathy [RCV000852599]|Cardiovascular phenotype [RCV000617381]|not provided [RCV000170864]|not specified [RCV000185499] Chr10:18500945 [GRCh38]
Chr10:18789874 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) single nucleotide variant Brugada syndrome 4 [RCV000988334]|Brugada syndrome [RCV000852600]|Cardiovascular phenotype [RCV000619766]|Early repolarization associated with ventricular fibrillation [RCV000148449]|not provided [RCV000170855]|not specified [RCV000185497] Chr10:18506518 [GRCh38]
Chr10:18795447 [GRCh37]
Chr10:10p12.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) single nucleotide variant Brugada syndrome 4 [RCV000231277]|Brugada syndrome [RCV000148450]|Cardiovascular phenotype [RCV000251462]|Ventricular tachycardia [RCV000852601]|not provided [RCV000170869]|not specified [RCV000185500] Chr10:18539252 [GRCh38]
Chr10:18828181 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) single nucleotide variant Brugada syndrome 4 [RCV001087038]|Brugada syndrome [RCV000148451]|Cardiovascular phenotype [RCV000619292]|not provided [RCV000170876]|not specified [RCV000185502] Chr10:18539517 [GRCh38]
Chr10:18828446 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile) single nucleotide variant Brugada syndrome 4 [RCV001247977]|Brugada syndrome [RCV000148452]|not specified [RCV000454635] Chr10:18534201 [GRCh38]
Chr10:18823130 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys) single nucleotide variant Sudden unexplained death [RCV000999612] Chr10:18539395 [GRCh38]
Chr10:18828324 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.622T>G (p.Leu208Val) single nucleotide variant Brugada syndrome 4 [RCV001349154] Chr10:18506499 [GRCh38]
Chr10:18795428 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) single nucleotide variant Brugada syndrome 4 [RCV000197803]|Cardiovascular phenotype [RCV000248968]|not specified [RCV000180025] Chr10:18518404 [GRCh38]
Chr10:18807333 [GRCh37]
Chr10:10p12.31
benign|likely benign|uncertain significance
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) single nucleotide variant not provided [RCV000171621] Chr10:18140840 [GRCh38]
Chr10:18429769 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln) single nucleotide variant not provided [RCV000171623] Chr10:18498380 [GRCh38]
Chr10:18787309 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.427G>A (p.Glu143Lys) single nucleotide variant Brugada syndrome 4 [RCV001221411]|not provided [RCV000171624] Chr10:18498448 [GRCh38]
Chr10:18787377 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.824A>G (p.Tyr275Cys) single nucleotide variant not provided [RCV000171625] Chr10:18518355 [GRCh38]
Chr10:18807284 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1093G>T (p.Ala365Ser) single nucleotide variant not provided [RCV000171626] Chr10:18534114 [GRCh38]
Chr10:18823043 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1558C>G (p.Pro520Ala) single nucleotide variant not provided [RCV000171628] Chr10:18539299 [GRCh38]
Chr10:18828228 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg) single nucleotide variant not provided [RCV000171629] Chr10:18539633 [GRCh38]
Chr10:18828562 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.804+653G>A single nucleotide variant Brugada syndrome 4 [RCV001001849]|not specified [RCV000171803] Chr10:18515022 [GRCh38]
Chr10:18803951 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) single nucleotide variant Brugada syndrome 4 [RCV000234242]|Cardiovascular phenotype [RCV000619181]|Primary dilated cardiomyopathy [RCV000852604]|not specified [RCV000171804] Chr10:18539557 [GRCh38]
Chr10:18828486 [GRCh37]
Chr10:10p12.31
benign|uncertain significance
NM_201596.3(CACNB2):c.214-839_214-837del microsatellite not provided [RCV000171622] Chr10:18401082..18401084 [GRCh38]
Chr10:18690011..18690013 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA duplication Brugada syndrome 4 [RCV001078849]|Cardiac arrhythmia [RCV000170857]|Long QT syndrome [RCV000208344]|not provided [RCV000171627] Chr10:18534227..18534228 [GRCh38]
Chr10:18823156..18823157 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1 copy number loss See cases [RCV000137307] Chr10:7428770..21587752 [GRCh38]
Chr10:7470732..21876681 [GRCh37]
Chr10:7510738..21916687 [NCBI36]
Chr10:10p14-12.31
pathogenic|uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31
pathogenic|likely pathogenic
NM_201596.3(CACNB2):c.121-3_121-2insTTTTTGT insertion not specified [RCV000202828] Chr10:18150879..18150880 [GRCh38]
Chr10:18439808..18439809 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=) single nucleotide variant Ventricular fibrillation [RCV000157130] Chr10:18534077 [GRCh38]
Chr10:18823006 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) single nucleotide variant Brugada syndrome 4 [RCV000810801]|Cardiac arrest [RCV000157131]|not provided [RCV000170873] Chr10:18539383 [GRCh38]
Chr10:18828312 [GRCh37]
Chr10:10p12.31
likely pathogenic|uncertain significance
NM_201596.3(CACNB2):c.1206+3A>T single nucleotide variant Brugada syndrome 4 [RCV000547052]|Cardiac arrest [RCV000157132]|Cardiovascular phenotype [RCV000243739] Chr10:18534230 [GRCh38]
Chr10:18823159 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.121-2A>T single nucleotide variant Brugada syndrome [RCV000211477] Chr10:18150881 [GRCh38]
Chr10:18439810 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.*10G>T single nucleotide variant Brugada syndrome 4 [RCV000195586]|not specified [RCV000249061] Chr10:18539734 [GRCh38]
Chr10:18828663 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1432C>T (p.Arg478Cys) single nucleotide variant Brugada syndrome 4 [RCV000198726] Chr10:18538309 [GRCh38]
Chr10:18827238 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-6C>T single nucleotide variant Brugada syndrome 4 [RCV000203769] Chr10:18401918 [GRCh38]
Chr10:18690847 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.334-8C>T single nucleotide variant Brugada syndrome 4 [RCV000625136]|Ventricular fibrillation [RCV000208153] Chr10:18498347 [GRCh38]
Chr10:18787276 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.1399C>T (p.Pro467Ser) single nucleotide variant Cardiac conduction defect, nonspecific [RCV000208390] Chr10:18538276 [GRCh38]
Chr10:18827205 [GRCh37]
Chr10:10p12.31
uncertain significance
GRCh37/hg19 10p12.33-12.31(chr10:18439858-20357134)x3 copy number gain Ductal breast carcinoma [RCV000207293] Chr10:18439858..20357134 [GRCh37]
Chr10:10p12.33-12.31
uncertain significance
NM_201596.3(CACNB2):c.1594T>G (p.Ser532Ala) single nucleotide variant Cardiac arrest [RCV000208041] Chr10:18539335 [GRCh38]
Chr10:18828264 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.928C>G (p.His310Asp) single nucleotide variant not provided [RCV000755889] Chr10:18518952 [GRCh38]
Chr10:18807881 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.121-1G>T single nucleotide variant Brugada syndrome [RCV000211519] Chr10:18150882 [GRCh38]
Chr10:18439811 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.1314T>C (p.Asp438=) single nucleotide variant Brugada syndrome 4 [RCV001393930]|not provided [RCV000227463] Chr10:18538191 [GRCh38]
Chr10:18827120 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.993G>A (p.Ser331=) single nucleotide variant Brugada syndrome 4 [RCV001000333]|Cardiovascular phenotype [RCV000249791]|not provided [RCV000589174] Chr10:18527636 [GRCh38]
Chr10:18816565 [GRCh37]
Chr10:10p12.31
benign|uncertain significance
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=) single nucleotide variant Brugada syndrome 4 [RCV000234144]|Cardiovascular phenotype [RCV000243143] Chr10:18539262 [GRCh38]
Chr10:18828191 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1665T>G (p.Phe555Leu) single nucleotide variant Brugada syndrome 4 [RCV000228679] Chr10:18539406 [GRCh38]
Chr10:18828335 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr) single nucleotide variant Brugada syndrome 4 [RCV000234746]|Cardiovascular phenotype [RCV000620776] Chr10:18534199 [GRCh38]
Chr10:18823128 [GRCh37]
Chr10:10p12.31
uncertain significance
GRCh37/hg19 10p12.31(chr10:18794238-18834881)x3 copy number gain See cases [RCV000240013] Chr10:18794238..18834881 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1927T>C (p.Ser643Pro) single nucleotide variant Brugada syndrome 4 [RCV001367524] Chr10:18539668 [GRCh38]
Chr10:18828597 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr) single nucleotide variant Brugada syndrome 4 [RCV001246563]|Cardiovascular phenotype [RCV000622006] Chr10:18498415 [GRCh38]
Chr10:18787344 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.457-17T>G single nucleotide variant Brugada syndrome 4 [RCV000615336]|not specified [RCV000253486] Chr10:18500795 [GRCh38]
Chr10:18789724 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1009A>G (p.Ser337Gly) single nucleotide variant Cardiovascular phenotype [RCV000253796] Chr10:18527652 [GRCh38]
Chr10:18816581 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.622T>C (p.Leu208=) single nucleotide variant Brugada syndrome 4 [RCV001078923]|Cardiovascular phenotype [RCV000254060]|not provided [RCV000589421]|not specified [RCV000426602] Chr10:18506499 [GRCh38]
Chr10:18795428 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp) single nucleotide variant Brugada syndrome 4 [RCV000865251]|Cardiovascular phenotype [RCV000249316]|not provided [RCV000479313] Chr10:18539411 [GRCh38]
Chr10:18828340 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser) single nucleotide variant Cardiovascular phenotype [RCV000244767] Chr10:18498436 [GRCh38]
Chr10:18787365 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1054+7C>T single nucleotide variant Brugada syndrome 4 [RCV000860377]|not specified [RCV000245077] Chr10:18527704 [GRCh38]
Chr10:18816633 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1140T>C (p.His380=) single nucleotide variant Brugada syndrome 4 [RCV001086312]|Cardiovascular phenotype [RCV000247502]|not provided [RCV000586204]|not specified [RCV000425252] Chr10:18534161 [GRCh38]
Chr10:18823090 [GRCh37]
Chr10:10p12.31
benign|likely benign|uncertain significance
NM_201596.3(CACNB2):c.219G>A (p.Ser73=) single nucleotide variant Brugada syndrome 4 [RCV001399188]|Cardiovascular phenotype [RCV000250537] Chr10:18401929 [GRCh38]
Chr10:18690858 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1701C>T (p.Tyr567=) single nucleotide variant Brugada syndrome 4 [RCV000860378]|Cardiovascular phenotype [RCV000250713]|not specified [RCV000253602] Chr10:18539442 [GRCh38]
Chr10:18828371 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr) single nucleotide variant Brugada syndrome 4 [RCV000549209] Chr10:18539666 [GRCh38]
Chr10:18828595 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1965C>T single nucleotide variant Brugada syndrome [RCV000304612] Chr10:18541689 [GRCh38]
Chr10:18830618 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*87A>G single nucleotide variant Brugada syndrome [RCV000308364] Chr10:18539811 [GRCh38]
Chr10:18828740 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1206+6T>C single nucleotide variant Brugada syndrome 4 [RCV000463017] Chr10:18534233 [GRCh38]
Chr10:18823162 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.*647G>T single nucleotide variant Brugada syndrome [RCV000312830] Chr10:18540371 [GRCh38]
Chr10:18829300 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*610AT[4] microsatellite Brugada syndrome [RCV000313836] Chr10:18540334..18540339 [GRCh38]
Chr10:18829263..18829268 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*463_*466dup duplication Brugada syndrome [RCV000317961] Chr10:18540184..18540185 [GRCh38]
Chr10:18829113..18829114 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.699T>C (p.Asp233=) single nucleotide variant Brugada syndrome [RCV000321232] Chr10:18514264 [GRCh38]
Chr10:18803193 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*571_*573dup duplication Brugada syndrome [RCV000323709] Chr10:18540293..18540294 [GRCh38]
Chr10:18829222..18829223 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*865T>C single nucleotide variant Brugada syndrome [RCV000323945] Chr10:18540589 [GRCh38]
Chr10:18829518 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-61251C>A single nucleotide variant Brugada syndrome [RCV000324332] Chr10:18340673 [GRCh38]
Chr10:18629602 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.420C>A (p.Ile140=) single nucleotide variant Brugada syndrome [RCV000324732] Chr10:18498441 [GRCh38]
Chr10:18787370 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-60996T>C single nucleotide variant Brugada syndrome 4 [RCV000527613] Chr10:18340928 [GRCh38]
Chr10:18629857 [GRCh37]
Chr10:10p12.32
uncertain significance
NM_201596.3(CACNB2):c.1858G>A (p.Glu620Lys) single nucleotide variant Brugada syndrome 4 [RCV000550115] Chr10:18539599 [GRCh38]
Chr10:18828528 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*995T>A single nucleotide variant Brugada syndrome [RCV000327251] Chr10:18540719 [GRCh38]
Chr10:18829648 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1719T>C (p.Asp573=) single nucleotide variant Brugada syndrome 4 [RCV000865692]|not specified [RCV000608830] Chr10:18539460 [GRCh38]
Chr10:18828389 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.*10del deletion Brugada syndrome [RCV000329978] Chr10:18539734 [GRCh38]
Chr10:18828663 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*217C>T single nucleotide variant Brugada syndrome [RCV000333221] Chr10:18539941 [GRCh38]
Chr10:18828870 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*15dup duplication Brugada syndrome [RCV000336097] Chr10:18539738..18539739 [GRCh38]
Chr10:18828667..18828668 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1261G>A (p.Val421Ile) single nucleotide variant Brugada syndrome 4 [RCV001041040] Chr10:18536155 [GRCh38]
Chr10:18825084 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1665T>C single nucleotide variant Brugada syndrome [RCV000338232] Chr10:18541389 [GRCh38]
Chr10:18830318 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*607_*608insAT insertion Brugada syndrome [RCV000340972] Chr10:18540331..18540332 [GRCh38]
Chr10:18829260..18829261 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*36del deletion Brugada syndrome [RCV000342052] Chr10:18539760 [GRCh38]
Chr10:18828689 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1242A>G single nucleotide variant Brugada syndrome [RCV000345189] Chr10:18540966 [GRCh38]
Chr10:18829895 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.909G>A (p.Ala303=) single nucleotide variant Brugada syndrome 4 [RCV001490938]|not provided [RCV000994361] Chr10:18518933 [GRCh38]
Chr10:18807862 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.*610AT[8] microsatellite Brugada syndrome [RCV000344277] Chr10:18540333..18540334 [GRCh38]
Chr10:18829262..18829263 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1588C>G single nucleotide variant Brugada syndrome [RCV000348556] Chr10:18541312 [GRCh38]
Chr10:18830241 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1055-12C>T single nucleotide variant Brugada syndrome [RCV000351426] Chr10:18534064 [GRCh38]
Chr10:18822993 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*790CTTGA[3] microsatellite Brugada syndrome [RCV000354385] Chr10:18540513..18540514 [GRCh38]
Chr10:18829442..18829443 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*694del deletion Brugada syndrome [RCV000356045] Chr10:18540418 [GRCh38]
Chr10:18829347 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.354G>A (p.Ala118=) single nucleotide variant Brugada syndrome 4 [RCV000475844] Chr10:18498375 [GRCh38]
Chr10:18787304 [GRCh37]
Chr10:10p12.31
benign|uncertain significance
NM_201596.3(CACNB2):c.1698C>G (p.Ala566=) single nucleotide variant Brugada syndrome [RCV000357579] Chr10:18539439 [GRCh38]
Chr10:18828368 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-61250G>A single nucleotide variant Brugada syndrome [RCV000360405] Chr10:18340674 [GRCh38]
Chr10:18629603 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.*2007G>A single nucleotide variant Brugada syndrome [RCV000361553] Chr10:18541731 [GRCh38]
Chr10:18830660 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*124_*127dup duplication Brugada syndrome [RCV000363056] Chr10:18539847..18539848 [GRCh38]
Chr10:18828776..18828777 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.360G>A (p.Arg120=) single nucleotide variant Brugada syndrome 4 [RCV001399730]|not provided [RCV000908819] Chr10:18498381 [GRCh38]
Chr10:18787310 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.*70_*71dup duplication Brugada syndrome [RCV000366403] Chr10:18539792..18539793 [GRCh38]
Chr10:18828721..18828722 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*242C>T single nucleotide variant Brugada syndrome [RCV000366806] Chr10:18539966 [GRCh38]
Chr10:18828895 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*620A>G single nucleotide variant Brugada syndrome [RCV000370886] Chr10:18540344 [GRCh38]
Chr10:18829273 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*516_*519dup duplication Brugada syndrome [RCV000372513] Chr10:18540237..18540238 [GRCh38]
Chr10:18829166..18829167 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*758_*761dup duplication Brugada syndrome [RCV000263604] Chr10:18540481..18540482 [GRCh38]
Chr10:18829410..18829411 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*2016T>C single nucleotide variant Brugada syndrome [RCV000264620] Chr10:18541740 [GRCh38]
Chr10:18830669 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*976G>A single nucleotide variant Brugada syndrome [RCV000265262] Chr10:18540700 [GRCh38]
Chr10:18829629 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*10_*11del deletion Brugada syndrome [RCV000375277] Chr10:18539734..18539735 [GRCh38]
Chr10:18828663..18828664 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*913T>A single nucleotide variant Brugada syndrome [RCV000376168] Chr10:18540637 [GRCh38]
Chr10:18829566 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.426C>T (p.Phe142=) single nucleotide variant Brugada syndrome 4 [RCV000864579] Chr10:18498447 [GRCh38]
Chr10:18787376 [GRCh37]
Chr10:10p12.31
benign|uncertain significance
NM_201596.3(CACNB2):c.*595C>A single nucleotide variant Brugada syndrome [RCV000380608] Chr10:18540319 [GRCh38]
Chr10:18829248 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1110C>T single nucleotide variant Brugada syndrome [RCV000384173] Chr10:18540834 [GRCh38]
Chr10:18829763 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.805-4G>A single nucleotide variant Cardiovascular phenotype [RCV000620453]|not provided [RCV000841715] Chr10:18518332 [GRCh38]
Chr10:18807261 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.*835AAGT[3] microsatellite Brugada syndrome [RCV000266499] Chr10:18540556..18540557 [GRCh38]
Chr10:18829485..18829486 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=) single nucleotide variant Brugada syndrome 4 [RCV001081317]|Cardiovascular phenotype [RCV000620685] Chr10:18539535 [GRCh38]
Chr10:18828464 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp) single nucleotide variant Brugada syndrome 4 [RCV000764884]|not specified [RCV000486501] Chr10:18539677 [GRCh38]
Chr10:18828606 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1330_*1333dup duplication Brugada syndrome [RCV000388168] Chr10:18541052..18541053 [GRCh38]
Chr10:18829981..18829982 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*41_*45dup duplication Brugada syndrome [RCV000390587] Chr10:18539762..18539763 [GRCh38]
Chr10:18828691..18828692 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1492T>G (p.Ser498Ala) single nucleotide variant Brugada syndrome [RCV000393382] Chr10:18539233 [GRCh38]
Chr10:18828162 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1723C>T single nucleotide variant Brugada syndrome [RCV000395666] Chr10:18541447 [GRCh38]
Chr10:18830376 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*621_*622insCA insertion Brugada syndrome [RCV000397009] Chr10:18540345..18540346 [GRCh38]
Chr10:18829274..18829275 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*76T>C single nucleotide variant Brugada syndrome [RCV000397457] Chr10:18539800 [GRCh38]
Chr10:18828729 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*432G>A single nucleotide variant Brugada syndrome [RCV000274533] Chr10:18540156 [GRCh38]
Chr10:18829085 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1611G>A single nucleotide variant Brugada syndrome [RCV000403736] Chr10:18541335 [GRCh38]
Chr10:18830264 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*608T>A single nucleotide variant Brugada syndrome [RCV000404418] Chr10:18540332 [GRCh38]
Chr10:18829261 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*609A>T single nucleotide variant Brugada syndrome [RCV000405508] Chr10:18540333 [GRCh38]
Chr10:18829262 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*16_*17insC insertion Brugada syndrome [RCV000406364]|not specified [RCV001193385] Chr10:18539740..18539741 [GRCh38]
Chr10:18828669..18828670 [GRCh37]
Chr10:10p12.31
benign|uncertain significance
NM_201596.3(CACNB2):c.*186_*189dup duplication Brugada syndrome [RCV000275854] Chr10:18539907..18539908 [GRCh38]
Chr10:18828836..18828837 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*565G>A single nucleotide variant Brugada syndrome [RCV000280263] Chr10:18540289 [GRCh38]
Chr10:18829218 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*600_*601TA[4] microsatellite Brugada syndrome [RCV000283630] Chr10:18540324..18540325 [GRCh38]
Chr10:18829253..18829254 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*17T>C single nucleotide variant not specified [RCV001201257] Chr10:18539741 [GRCh38]
Chr10:18828670 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.*1229T>G single nucleotide variant Brugada syndrome [RCV000287910] Chr10:18540953 [GRCh38]
Chr10:18829882 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*608_*609delinsAT indel Brugada syndrome [RCV000292032] Chr10:18540332..18540333 [GRCh38]
Chr10:18829261..18829262 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1565A>G single nucleotide variant Brugada syndrome [RCV000296201] Chr10:18541289 [GRCh38]
Chr10:18830218 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*786_*789dup duplication Brugada syndrome [RCV000297165] Chr10:18540507..18540508 [GRCh38]
Chr10:18829436..18829437 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1516C>T (p.Arg506Cys) single nucleotide variant Brugada syndrome 4 [RCV000557766] Chr10:18539257 [GRCh38]
Chr10:18828186 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*1619T>C single nucleotide variant Brugada syndrome [RCV000299668] Chr10:18541343 [GRCh38]
Chr10:18830272 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-61181T>A single nucleotide variant Brugada syndrome [RCV000300355] Chr10:18340743 [GRCh38]
Chr10:18629672 [GRCh37]
Chr10:10p12.32
uncertain significance
NM_201596.3(CACNB2):c.*52_*55dup duplication Brugada syndrome [RCV000302381] Chr10:18539775..18539776 [GRCh38]
Chr10:18828704..18828705 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.214-61001T>C single nucleotide variant Cardiovascular phenotype [RCV000621914] Chr10:18340923 [GRCh38]
Chr10:18629852 [GRCh37]
Chr10:10p12.32
uncertain significance
NM_201596.3(CACNB2):c.804+167T>C single nucleotide variant not specified [RCV000601296] Chr10:18514536 [GRCh38]
Chr10:18803465 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1154G>A (p.Ser385Asn) single nucleotide variant Cardiovascular phenotype [RCV000621837] Chr10:18534175 [GRCh38]
Chr10:18823104 [GRCh37]
Chr10:10p12.31
uncertain significance
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23
pathogenic
NM_201596.3(CACNB2):c.1303-4G>A single nucleotide variant Cardiovascular phenotype [RCV000618277]|not specified [RCV000430952] Chr10:18538176 [GRCh38]
Chr10:18827105 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.214-934C>T single nucleotide variant not specified [RCV000417727] Chr10:18400990 [GRCh38]
Chr10:18689919 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.213+110324G>T single nucleotide variant not specified [RCV000431146] Chr10:18261299 [GRCh38]
Chr10:18550228 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) single nucleotide variant Brugada syndrome 4 [RCV000697967] Chr10:18539422 [GRCh38]
Chr10:18828351 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1489-8G>A single nucleotide variant Brugada syndrome 4 [RCV001426927]|not provided [RCV000875599]|not specified [RCV000434634] Chr10:18539222 [GRCh38]
Chr10:18828151 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.102G>T (p.Ala34=) single nucleotide variant not specified [RCV000441802] Chr10:18140838 [GRCh38]
Chr10:18429767 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.670+9G>A single nucleotide variant Brugada syndrome 4 [RCV001443039]|not specified [RCV000441932] Chr10:18506556 [GRCh38]
Chr10:18795485 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.944+12A>G single nucleotide variant not specified [RCV000418056] Chr10:18518980 [GRCh38]
Chr10:18807909 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.213+110351C>A single nucleotide variant not specified [RCV000435113] Chr10:18261326 [GRCh38]
Chr10:18550255 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.*10G>C single nucleotide variant not specified [RCV000442191] Chr10:18539734 [GRCh38]
Chr10:18828663 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.-4G>A single nucleotide variant not specified [RCV000418808] Chr10:18140733 [GRCh38]
Chr10:18429662 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.1489-12T>G single nucleotide variant not specified [RCV000435528] Chr10:18539218 [GRCh38]
Chr10:18828147 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.87G>T (p.Val29=) single nucleotide variant not specified [RCV000421723] Chr10:18140823 [GRCh38]
Chr10:18429752 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.1488+8G>A single nucleotide variant Brugada syndrome 4 [RCV001391692]|not provided [RCV000866686]|not specified [RCV000439233] Chr10:18538373 [GRCh38]
Chr10:18827302 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.385C>T (p.His129Tyr) single nucleotide variant not provided [RCV000439547] Chr10:18498406 [GRCh38]
Chr10:18787335 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.804+601A>G single nucleotide variant not specified [RCV000419720] Chr10:18514970 [GRCh38]
Chr10:18803899 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.*10G>A single nucleotide variant not specified [RCV000425825] Chr10:18539734 [GRCh38]
Chr10:18828663 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.804+123C>T single nucleotide variant not specified [RCV000443669] Chr10:18514492 [GRCh38]
Chr10:18803421 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.84C>T (p.Asn28=) single nucleotide variant not specified [RCV000440268] Chr10:18140820 [GRCh38]
Chr10:18429749 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.96G>A (p.Ala32=) single nucleotide variant not specified [RCV000440713] Chr10:18140832 [GRCh38]
Chr10:18429761 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) single nucleotide variant Brugada syndrome 4 [RCV001086385]|Brugada syndrome [RCV000417288]|Cardiovascular phenotype [RCV000619934]|not provided [RCV000498848] Chr10:18539332 [GRCh38]
Chr10:18828261 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201596.3(CACNB2):c.804+176A>G single nucleotide variant not specified [RCV000434038] Chr10:18514545 [GRCh38]
Chr10:18803474 [GRCh37]
Chr10:10p12.31
likely benign
GRCh37/hg19 10p12.33(chr10:18550958-18583866) copy number loss Abnormality of esophagus morphology [RCV000416618] Chr10:18550958..18583866 [GRCh37]
Chr10:10p12.33
uncertain significance
GRCh37/hg19 10p12.33(chr10:18550958-18592873) copy number loss Abnormality of esophagus morphology [RCV000416762] Chr10:18550958..18592873 [GRCh37]
Chr10:10p12.33
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_201596.3(CACNB2):c.1851_1859dup (p.Asp617_Asn619dup) duplication Brugada syndrome 4 [RCV000470276] Chr10:18539589..18539590 [GRCh38]
Chr10:18828518..18828519 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg) single nucleotide variant Brugada syndrome 4 [RCV001504918]|not provided [RCV000483478] Chr10:18536192 [GRCh38]
Chr10:18825121 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala) single nucleotide variant Brugada syndrome 4 [RCV001056751]|not specified [RCV000483510] Chr10:18539449 [GRCh38]
Chr10:18828378 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp) single nucleotide variant Brugada syndrome 4 [RCV001217779]|not provided [RCV000483546] Chr10:18498431 [GRCh38]
Chr10:18787360 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1688G>C (p.Arg563Pro) single nucleotide variant not provided [RCV000483582] Chr10:18539429 [GRCh38]
Chr10:18828358 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr) single nucleotide variant Brugada syndrome 4 [RCV000463220] Chr10:18527668 [GRCh38]
Chr10:18816597 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-60959C>T single nucleotide variant Brugada syndrome 4 [RCV001465300]|not provided [RCV000470688] Chr10:18340965 [GRCh38]
Chr10:18629894 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.1825T>A (p.Ser609Thr) single nucleotide variant not provided [RCV000479878] Chr10:18539566 [GRCh38]
Chr10:18828495 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly) single nucleotide variant Brugada syndrome 4 [RCV000463627] Chr10:18534097 [GRCh38]
Chr10:18823026 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1797C>T (p.Asp599=) single nucleotide variant Brugada syndrome 4 [RCV001415250]|not provided [RCV000467488] Chr10:18539538 [GRCh38]
Chr10:18828467 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His) single nucleotide variant Brugada syndrome 4 [RCV000475457] Chr10:18539273 [GRCh38]
Chr10:18828202 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1302+15_1302+18del microsatellite not specified [RCV000480386] Chr10:18536209..18536212 [GRCh38]
Chr10:18825138..18825141 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1833C>T (p.Asp611=) single nucleotide variant Brugada syndrome 4 [RCV000475108] Chr10:18539574 [GRCh38]
Chr10:18828503 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp) single nucleotide variant Brugada syndrome 4 [RCV000477754]|Cardiovascular phenotype [RCV000621687]|not provided [RCV000588292] Chr10:18539569 [GRCh38]
Chr10:18828498 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.804+146G>T single nucleotide variant Brugada syndrome 4 [RCV001409829]|not specified [RCV000455045] Chr10:18514515 [GRCh38]
Chr10:18803444 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.1488+13_1488+33dup duplication not specified [RCV000480886] Chr10:18538377..18538378 [GRCh38]
Chr10:18827306..18827307 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) single nucleotide variant Brugada syndrome 4 [RCV000471885]|Brugada syndrome [RCV000590945]|Cardiovascular phenotype [RCV000619640] Chr10:18500899 [GRCh38]
Chr10:18789828 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1293G>A (p.Gln431=) single nucleotide variant Brugada syndrome 4 [RCV001087597]|not provided [RCV000827126] Chr10:18536187 [GRCh38]
Chr10:18825116 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys) single nucleotide variant not specified [RCV000455411] Chr10:18539614 [GRCh38]
Chr10:18828543 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1464C>T (p.Ser488=) single nucleotide variant Brugada syndrome 4 [RCV000457481] Chr10:18538341 [GRCh38]
Chr10:18827270 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1935A>G (p.Lys645=) single nucleotide variant Brugada syndrome 4 [RCV000465156]|Cardiovascular phenotype [RCV000618611]|not specified [RCV000610180] Chr10:18539676 [GRCh38]
Chr10:18828605 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1776C>T (p.Asp592=) single nucleotide variant Brugada syndrome 4 [RCV001437589]|not provided [RCV000476526] Chr10:18539517 [GRCh38]
Chr10:18828446 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) single nucleotide variant Brugada syndrome 4 [RCV000697431]|not specified [RCV000455800] Chr10:18538234 [GRCh38]
Chr10:18827163 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1A>G (p.Met1Val) single nucleotide variant not specified [RCV000455907] Chr10:18140737 [GRCh38]
Chr10:18429666 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.1891A>G (p.Lys631Glu) single nucleotide variant Brugada syndrome 4 [RCV001341327]|not provided [RCV000482157] Chr10:18539632 [GRCh38]
Chr10:18828561 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.120+360G>C single nucleotide variant Brugada syndrome [RCV000509348]|not provided [RCV000486766] Chr10:18141216 [GRCh38]
Chr10:18430145 [GRCh37]
Chr10:10p12.33
uncertain significance|not provided
NM_201596.3(CACNB2):c.1534del (p.Ser512fs) deletion not specified [RCV000456064] Chr10:18539274 [GRCh38]
Chr10:18828203 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-60937C>T single nucleotide variant Brugada syndrome 4 [RCV001480820]|not provided [RCV000469630] Chr10:18340987 [GRCh38]
Chr10:18629916 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.1231C>G (p.Arg411Gly) single nucleotide variant not provided [RCV000487348] Chr10:18536125 [GRCh38]
Chr10:18825054 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1580A>C (p.Lys527Thr) single nucleotide variant not provided [RCV000483244] Chr10:18539321 [GRCh38]
Chr10:18828250 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.403G>T (p.Val135Leu) single nucleotide variant Brugada syndrome 4 [RCV000477539] Chr10:18498424 [GRCh38]
Chr10:18787353 [GRCh37]
Chr10:10p12.31
uncertain significance
GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1 copy number loss See cases [RCV000510639] Chr10:15966534..19063585 [GRCh37]
Chr10:10p13-12.31
uncertain significance
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr) single nucleotide variant Brugada syndrome 4 [RCV001322930]|Primary dilated cardiomyopathy [RCV000498925] Chr10:18536170 [GRCh38]
Chr10:18825099 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.218C>T (p.Ser73Leu) single nucleotide variant Brugada syndrome 4 [RCV001079616]|not provided [RCV000497797] Chr10:18401928 [GRCh38]
Chr10:18690857 [GRCh37]
Chr10:10p12.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10p13-12.31(chr10:16624071-19846248)x3 copy number gain See cases [RCV000511935] Chr10:16624071..19846248 [GRCh37]
Chr10:10p13-12.31
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) single nucleotide variant Brugada syndrome 4 [RCV000556414] Chr10:18539429 [GRCh38]
Chr10:18828358 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1898G>A (p.Arg633His) single nucleotide variant Brugada syndrome 4 [RCV000534004] Chr10:18539639 [GRCh38]
Chr10:18828568 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1272A>G (p.Val424=) single nucleotide variant Cardiovascular phenotype [RCV000617349] Chr10:18536166 [GRCh38]
Chr10:18825095 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.120+366C>G single nucleotide variant Brugada syndrome 4 [RCV000625134] Chr10:18141222 [GRCh38]
Chr10:18430151 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val) single nucleotide variant Brugada syndrome 4 [RCV000646197] Chr10:18534076 [GRCh38]
Chr10:18823005 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.994G>T (p.Val332Leu) single nucleotide variant Brugada syndrome 4 [RCV000646198] Chr10:18527637 [GRCh38]
Chr10:18816566 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.437A>G (p.Asp146Gly) single nucleotide variant Brugada syndrome 4 [RCV000646199] Chr10:18498458 [GRCh38]
Chr10:18787387 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys) single nucleotide variant Brugada syndrome 4 [RCV000646200] Chr10:18539563 [GRCh38]
Chr10:18828492 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro) single nucleotide variant Brugada syndrome 4 [RCV000646206] Chr10:18539488 [GRCh38]
Chr10:18828417 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.912G>A (p.Leu304=) single nucleotide variant Brugada syndrome 4 [RCV000646209] Chr10:18518936 [GRCh38]
Chr10:18807865 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1488+6G>A single nucleotide variant Brugada syndrome 4 [RCV000646210] Chr10:18538371 [GRCh38]
Chr10:18827300 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.339G>A (p.Lys113=) single nucleotide variant Brugada syndrome 4 [RCV000646212] Chr10:18498360 [GRCh38]
Chr10:18787289 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.121-9_121-3del deletion Brugada syndrome 4 [RCV000625135] Chr10:18150856..18150862 [GRCh38]
Chr10:18439785..18439791 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu) single nucleotide variant Cardiovascular phenotype [RCV000618286] Chr10:18518349 [GRCh38]
Chr10:18807278 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.457-15T>C single nucleotide variant not specified [RCV000609573] Chr10:18500797 [GRCh38]
Chr10:18789726 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1509G>T (p.Arg503Ser) single nucleotide variant Cardiovascular phenotype [RCV000617222] Chr10:18539250 [GRCh38]
Chr10:18828179 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.*35del deletion Brugada syndrome 4 [RCV000625137]|not provided [RCV001540984] Chr10:18539741 [GRCh38]
Chr10:18828670 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.821C>T (p.Pro274Leu) single nucleotide variant Cardiovascular phenotype [RCV000618417] Chr10:18518352 [GRCh38]
Chr10:18807281 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.-17G>T single nucleotide variant not specified [RCV000610151] Chr10:18140720 [GRCh38]
Chr10:18429649 [GRCh37]
Chr10:10p12.33
benign
NM_201596.3(CACNB2):c.1937G>A (p.Arg646Gln) single nucleotide variant Brugada syndrome 4 [RCV001294722]|Cardiovascular phenotype [RCV000619434] Chr10:18539678 [GRCh38]
Chr10:18828607 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1302A>G (p.Pro434=) single nucleotide variant not specified [RCV000610807] Chr10:18536196 [GRCh38]
Chr10:18825125 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.214-60936G>C single nucleotide variant not specified [RCV000606263] Chr10:18340988 [GRCh38]
Chr10:18629917 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.1650C>T (p.Ser550=) single nucleotide variant Brugada syndrome 4 [RCV001517832]|not specified [RCV000611543] Chr10:18539391 [GRCh38]
Chr10:18828320 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs) duplication Cardiovascular phenotype [RCV000620178] Chr10:18539647..18539648 [GRCh38]
Chr10:18828576..18828577 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1639C>T (p.Arg547Cys) single nucleotide variant Brugada syndrome 4 [RCV000646201]|not provided [RCV000786282] Chr10:18539380 [GRCh38]
Chr10:18828309 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.710A>C (p.Asn237Thr) single nucleotide variant Brugada syndrome 4 [RCV000646202] Chr10:18514275 [GRCh38]
Chr10:18803204 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1624C>T (p.Arg542Cys) single nucleotide variant Brugada syndrome 4 [RCV000646203] Chr10:18539365 [GRCh38]
Chr10:18828294 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.442C>G (p.Leu148Val) single nucleotide variant Brugada syndrome 4 [RCV000646205] Chr10:18498463 [GRCh38]
Chr10:18787392 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr) single nucleotide variant Brugada syndrome 4 [RCV000646207]|not specified [RCV001260307] Chr10:18527610 [GRCh38]
Chr10:18816539 [GRCh37]
Chr10:10p12.31
benign|uncertain significance
NM_201596.3(CACNB2):c.1874G>A (p.Arg625His) single nucleotide variant Brugada syndrome 4 [RCV000646208] Chr10:18539615 [GRCh38]
Chr10:18828544 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.342C>T (p.Pro114=) single nucleotide variant Brugada syndrome 4 [RCV000646211] Chr10:18498363 [GRCh38]
Chr10:18787292 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1017C>T (p.His339=) single nucleotide variant Brugada syndrome 4 [RCV000646214] Chr10:18527660 [GRCh38]
Chr10:18816589 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1914T>C (p.Asp638=) single nucleotide variant Brugada syndrome 4 [RCV000646215] Chr10:18539655 [GRCh38]
Chr10:18828584 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1389C>A (p.Ala463=) single nucleotide variant Brugada syndrome 4 [RCV000646217] Chr10:18538266 [GRCh38]
Chr10:18827195 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1539T>C (p.Ala513=) single nucleotide variant Brugada syndrome 4 [RCV000646218] Chr10:18539280 [GRCh38]
Chr10:18828209 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.944+12A>T single nucleotide variant not specified [RCV000603375] Chr10:18518980 [GRCh38]
Chr10:18807909 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.214-61000A>G single nucleotide variant Cardiovascular phenotype [RCV000621398] Chr10:18340924 [GRCh38]
Chr10:18629853 [GRCh37]
Chr10:10p12.32
uncertain significance
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu) single nucleotide variant Cardiovascular phenotype [RCV000617371]|not specified [RCV001193384] Chr10:18539443 [GRCh38]
Chr10:18828372 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.238C>G (p.Arg80Gly) single nucleotide variant not provided [RCV000658200] Chr10:18401948 [GRCh38]
Chr10:18690877 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His) single nucleotide variant Brugada syndrome 4 [RCV001247665]|Brugada syndrome [RCV000678782] Chr10:18538310 [GRCh38]
Chr10:18827239 [GRCh37]
Chr10:10p12.31
uncertain significance
GRCh37/hg19 10p12.33-12.31(chr10:18438918-19446074)x3 copy number gain not provided [RCV000683251] Chr10:18438918..19446074 [GRCh37]
Chr10:10p12.33-12.31
uncertain significance
GRCh37/hg19 10p12.33-12.31(chr10:17766249-18867108)x3 copy number gain not provided [RCV000683253] Chr10:17766249..18867108 [GRCh37]
Chr10:10p12.33-12.31
uncertain significance
NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr) single nucleotide variant Brugada syndrome 4 [RCV000699711] Chr10:18402000 [GRCh38]
Chr10:18690929 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1913A>G (p.Asp638Gly) single nucleotide variant Brugada syndrome 4 [RCV000702021] Chr10:18539654 [GRCh38]
Chr10:18828583 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu) single nucleotide variant Brugada syndrome 4 [RCV000707451] Chr10:18498445 [GRCh38]
Chr10:18787374 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val) single nucleotide variant Brugada syndrome 4 [RCV000697864] Chr10:18534145 [GRCh38]
Chr10:18823074 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1207G>A (p.Val403Ile) single nucleotide variant Brugada syndrome 4 [RCV000697496] Chr10:18536101 [GRCh38]
Chr10:18825030 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.667T>A (p.Ser223Thr) single nucleotide variant Brugada syndrome 4 [RCV000694906] Chr10:18506544 [GRCh38]
Chr10:18795473 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr) single nucleotide variant Brugada syndrome 4 [RCV000695562] Chr10:18527661 [GRCh38]
Chr10:18816590 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.686C>A (p.Ala229Asp) single nucleotide variant Brugada syndrome 4 [RCV000696115] Chr10:18514251 [GRCh38]
Chr10:18803180 [GRCh37]
Chr10:10p12.31
uncertain significance
Single allele deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31
pathogenic
GRCh37/hg19 10p12.31(chr10:18825694-18868070)x3 copy number gain not provided [RCV000749520] Chr10:18825694..18868070 [GRCh37]
Chr10:10p12.31
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_201596.3(CACNB2):c.1054+7C>A single nucleotide variant Brugada syndrome 4 [RCV001393206]|not provided [RCV000976978] Chr10:18527704 [GRCh38]
Chr10:18816633 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852429] Chr10:18500858 [GRCh38]
Chr10:18789787 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.859G>C (p.Val287Leu) single nucleotide variant Brugada syndrome 4 [RCV001065256] Chr10:18518390 [GRCh38]
Chr10:18807319 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.446A>C (p.His149Pro) single nucleotide variant Brugada syndrome 4 [RCV001045579] Chr10:18498467 [GRCh38]
Chr10:18787396 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1489-8G>C single nucleotide variant Brugada syndrome 4 [RCV001429084]|not provided [RCV000869225] Chr10:18539222 [GRCh38]
Chr10:18828151 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1965T>C (p.Asp655=) single nucleotide variant Brugada syndrome 4 [RCV000866498] Chr10:18539706 [GRCh38]
Chr10:18828635 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.594-4C>G single nucleotide variant Brugada syndrome 4 [RCV001401976]|not provided [RCV000936136] Chr10:18506467 [GRCh38]
Chr10:18795396 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1092T>C (p.Leu364=) single nucleotide variant Brugada syndrome 4 [RCV001503118]|not provided [RCV000867718] Chr10:18534113 [GRCh38]
Chr10:18823042 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.711T>C (p.Asn237=) single nucleotide variant Brugada syndrome 4 [RCV001521063]|not provided [RCV000884048] Chr10:18514276 [GRCh38]
Chr10:18803205 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.652T>G (p.Ser218Ala) single nucleotide variant Brugada syndrome 4 [RCV001050762] Chr10:18506529 [GRCh38]
Chr10:18795458 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.54G>C (p.Ala18=) single nucleotide variant not provided [RCV000828220] Chr10:18140790 [GRCh38]
Chr10:18429719 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=) single nucleotide variant Brugada syndrome 4 [RCV001501271]|not provided [RCV000863894] Chr10:18539424 [GRCh38]
Chr10:18828353 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.978G>A (p.Ser326=) single nucleotide variant Brugada syndrome 4 [RCV001421934]|not provided [RCV000866090] Chr10:18527621 [GRCh38]
Chr10:18816550 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1311C>T (p.Phe437=) single nucleotide variant Brugada syndrome 4 [RCV000868835] Chr10:18538188 [GRCh38]
Chr10:18827117 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=) single nucleotide variant Brugada syndrome 4 [RCV001424210]|not provided [RCV000874118] Chr10:18539490 [GRCh38]
Chr10:18828419 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1640G>A (p.Arg547His) single nucleotide variant Brugada syndrome 4 [RCV000983890] Chr10:18539381 [GRCh38]
Chr10:18828310 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1207-7T>C single nucleotide variant Brugada syndrome 4 [RCV001470703]|not provided [RCV000981978] Chr10:18536094 [GRCh38]
Chr10:18825023 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1489-9C>T single nucleotide variant Brugada syndrome 4 [RCV000865304]|not provided [RCV001534727] Chr10:18539221 [GRCh38]
Chr10:18828150 [GRCh37]
Chr10:10p12.31
benign|likely benign
NM_201596.3(CACNB2):c.1206+264G>C single nucleotide variant not provided [RCV000827780] Chr10:18534491 [GRCh38]
Chr10:18823420 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.214-185A>G single nucleotide variant not provided [RCV000831039] Chr10:18401739 [GRCh38]
Chr10:18690668 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.670+120G>A single nucleotide variant not provided [RCV000831040] Chr10:18506667 [GRCh38]
Chr10:18795596 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.805-208G>A single nucleotide variant not provided [RCV000831041] Chr10:18518128 [GRCh38]
Chr10:18807057 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.121-219A>C single nucleotide variant not provided [RCV000835788] Chr10:18150664 [GRCh38]
Chr10:18439593 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.671-177T>G single nucleotide variant not provided [RCV000835806] Chr10:18514059 [GRCh38]
Chr10:18802988 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1017C>A (p.His339Gln) single nucleotide variant Brugada syndrome 4 [RCV000806956] Chr10:18527660 [GRCh38]
Chr10:18816589 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.671-264T>C single nucleotide variant not provided [RCV000828751] Chr10:18513972 [GRCh38]
Chr10:18802901 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1488+85C>G single nucleotide variant not provided [RCV000834796] Chr10:18538450 [GRCh38]
Chr10:18827379 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.670+232G>A single nucleotide variant not provided [RCV000838320] Chr10:18506779 [GRCh38]
Chr10:18795708 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1303-296T>C single nucleotide variant not provided [RCV000843444] Chr10:18537884 [GRCh38]
Chr10:18826813 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.945-281T>C single nucleotide variant not provided [RCV000843453] Chr10:18527307 [GRCh38]
Chr10:18816236 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1489-331C>T single nucleotide variant not provided [RCV000843455] Chr10:18538899 [GRCh38]
Chr10:18827828 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1489-273A>C single nucleotide variant not provided [RCV000843456] Chr10:18538957 [GRCh38]
Chr10:18827886 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1302+238T>G single nucleotide variant not provided [RCV000838695] Chr10:18536434 [GRCh38]
Chr10:18825363 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.-259C>A single nucleotide variant not provided [RCV000833683] Chr10:18140478 [GRCh38]
Chr10:18429407 [GRCh37]
Chr10:10p12.33
benign
GRCh37/hg19 10p12.31(chr10:18765120-18890374)x1 copy number loss not provided [RCV000848963] Chr10:18765120..18890374 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.804+957_804+960del deletion not provided [RCV000827778] Chr10:18515326..18515329 [GRCh38]
Chr10:18804255..18804258 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.456+68A>G single nucleotide variant not provided [RCV000834833] Chr10:18498545 [GRCh38]
Chr10:18787474 [GRCh37]
Chr10:10p12.31
likely benign
NC_000010.11:g.18518332G>A single nucleotide variant not provided [RCV000841715] Chr10:18807261 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1591C>G (p.Arg531Gly) single nucleotide variant Brugada syndrome 4 [RCV000817459] Chr10:18539332 [GRCh38]
Chr10:18828261 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.593+265G>T single nucleotide variant not provided [RCV000832536] Chr10:18501213 [GRCh38]
Chr10:18790142 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1562G>A (p.Ser521Asn) single nucleotide variant Brugada syndrome 4 [RCV000824278] Chr10:18539303 [GRCh38]
Chr10:18828232 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.456+315G>T single nucleotide variant not provided [RCV000828904] Chr10:18498792 [GRCh38]
Chr10:18787721 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1663T>C (p.Phe555Leu) single nucleotide variant Brugada syndrome 4 [RCV000795627] Chr10:18539404 [GRCh38]
Chr10:18828333 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1639C>A (p.Arg547Ser) single nucleotide variant Brugada syndrome 4 [RCV001062513] Chr10:18539380 [GRCh38]
Chr10:18828309 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1207-294G>A single nucleotide variant not provided [RCV000830685] Chr10:18535807 [GRCh38]
Chr10:18824736 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.213+110592G>A single nucleotide variant not provided [RCV000828900] Chr10:18261567 [GRCh38]
Chr10:18550496 [GRCh37]
Chr10:10p12.33
benign
NM_201596.3(CACNB2):c.1753C>T (p.His585Tyr) single nucleotide variant not provided [RCV000994365] Chr10:18539494 [GRCh38]
Chr10:18828423 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-154G>C single nucleotide variant not provided [RCV000833103] Chr10:18401770 [GRCh38]
Chr10:18690699 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.456+42C>G single nucleotide variant not provided [RCV000833104] Chr10:18498519 [GRCh38]
Chr10:18787448 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1941T>C (p.Asn647=) single nucleotide variant Brugada syndrome 4 [RCV001402926]|not provided [RCV000980066] Chr10:18539682 [GRCh38]
Chr10:18828611 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.670+245T>G single nucleotide variant not provided [RCV000837529] Chr10:18506792 [GRCh38]
Chr10:18795721 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1489-330G>A single nucleotide variant not provided [RCV000844010] Chr10:18538900 [GRCh38]
Chr10:18827829 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1001A>G (p.Asn334Ser) single nucleotide variant Brugada syndrome 4 [RCV000802761] Chr10:18527644 [GRCh38]
Chr10:18816573 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.353C>T (p.Ala118Val) single nucleotide variant Brugada syndrome 4 [RCV000799880] Chr10:18498374 [GRCh38]
Chr10:18787303 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.213+110392C>T single nucleotide variant not provided [RCV000832538] Chr10:18261367 [GRCh38]
Chr10:18550296 [GRCh37]
Chr10:10p12.33
likely benign
NM_201596.3(CACNB2):c.214-61327A>G single nucleotide variant not provided [RCV000832769] Chr10:18340597 [GRCh38]
Chr10:18629526 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.945-34C>T single nucleotide variant not provided [RCV000836066] Chr10:18527554 [GRCh38]
Chr10:18816483 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1206+150T>C single nucleotide variant not provided [RCV000836077] Chr10:18534377 [GRCh38]
Chr10:18823306 [GRCh37]
Chr10:10p12.31
likely benign
GRCh37/hg19 10p12.32-12.31(chr10:18600279-20348839)x3 copy number gain not provided [RCV001006299] Chr10:18600279..20348839 [GRCh37]
Chr10:10p12.32-12.31
uncertain significance
NM_201596.3(CACNB2):c.213+110307G>A single nucleotide variant not provided [RCV000994360] Chr10:18261282 [GRCh38]
Chr10:18550211 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.1260C>T (p.Asn420=) single nucleotide variant not specified [RCV001193383] Chr10:18536154 [GRCh38]
Chr10:18825083 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.742C>T (p.Pro248Ser) single nucleotide variant Brugada syndrome 4 [RCV001223771] Chr10:18514307 [GRCh38]
Chr10:18803236 [GRCh37]
Chr10:10p12.31
uncertain significance
NC_000010.11:g.18539231del deletion Brugada syndrome 4 [RCV001220805] Chr10:18539229 [GRCh38]
Chr10:18828158 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1744_1764del (p.Tyr582_His588del) deletion Brugada syndrome 4 [RCV001241430] Chr10:18539479..18539499 [GRCh38]
Chr10:18828408..18828428 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1570C>T (p.Pro524Ser) single nucleotide variant Brugada syndrome 4 [RCV001239832] Chr10:18539311 [GRCh38]
Chr10:18828240 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.340C>G (p.Pro114Ala) single nucleotide variant Brugada syndrome 4 [RCV001225504] Chr10:18498361 [GRCh38]
Chr10:18787290 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1823G>A (p.Arg608His) single nucleotide variant Brugada syndrome 4 [RCV001210713] Chr10:18539564 [GRCh38]
Chr10:18828493 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1711A>G (p.Lys571Glu) single nucleotide variant not provided [RCV000994364] Chr10:18539452 [GRCh38]
Chr10:18828381 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1488+9A>G single nucleotide variant Brugada syndrome 4 [RCV000869912] Chr10:18538374 [GRCh38]
Chr10:18827303 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.594-4C>T single nucleotide variant Brugada syndrome 4 [RCV001406389]|not provided [RCV000952122] Chr10:18506467 [GRCh38]
Chr10:18795396 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1431C>T (p.Ser477=) single nucleotide variant Brugada syndrome 4 [RCV000875851] Chr10:18538308 [GRCh38]
Chr10:18827237 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.663A>G (p.Pro221=) single nucleotide variant not provided [RCV000871901] Chr10:18506540 [GRCh38]
Chr10:18795469 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.214-60938A>C single nucleotide variant not provided [RCV000908817] Chr10:18340986 [GRCh38]
Chr10:18629915 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.1122C>T (p.Asp374=) single nucleotide variant Brugada syndrome 4 [RCV000865431] Chr10:18534143 [GRCh38]
Chr10:18823072 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.576A>G (p.Gln192=) single nucleotide variant Brugada syndrome 4 [RCV000861770] Chr10:18500931 [GRCh38]
Chr10:18789860 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.805-10C>G single nucleotide variant Brugada syndrome 4 [RCV001436854]|not provided [RCV000932225] Chr10:18518326 [GRCh38]
Chr10:18807255 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1517G>A (p.Arg506His) single nucleotide variant Brugada syndrome 4 [RCV001226135] Chr10:18539258 [GRCh38]
Chr10:18828187 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1840C>T (p.Arg614Ter) single nucleotide variant Brugada syndrome 4 [RCV001036310] Chr10:18539581 [GRCh38]
Chr10:18828510 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.977C>T (p.Ser326Leu) single nucleotide variant Brugada syndrome 4 [RCV001245459] Chr10:18527620 [GRCh38]
Chr10:18816549 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1702G>T (p.Val568Leu) single nucleotide variant Brugada syndrome 4 [RCV001241897] Chr10:18539443 [GRCh38]
Chr10:18828372 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.822G>C (p.Pro274=) single nucleotide variant Brugada syndrome 4 [RCV000934117] Chr10:18518353 [GRCh38]
Chr10:18807282 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.1168G>A (p.Ala390Thr) single nucleotide variant not provided [RCV000994362] Chr10:18534189 [GRCh38]
Chr10:18823118 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1268T>C (p.Met423Thr) single nucleotide variant not provided [RCV000994363] Chr10:18536162 [GRCh38]
Chr10:18825091 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1055-1G>A single nucleotide variant Brugada syndrome 4 [RCV001066491] Chr10:18534075 [GRCh38]
Chr10:18823004 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1625G>A (p.Arg542His) single nucleotide variant Brugada syndrome 4 [RCV001228665] Chr10:18539366 [GRCh38]
Chr10:18828295 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.445C>T (p.His149Tyr) single nucleotide variant Brugada syndrome 4 [RCV001049624] Chr10:18498466 [GRCh38]
Chr10:18787395 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1735G>A (p.Val579Met) single nucleotide variant Brugada syndrome 4 [RCV001046971] Chr10:18539476 [GRCh38]
Chr10:18828405 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.485G>T (p.Arg162Leu) single nucleotide variant Brugada syndrome 4 [RCV001248789] Chr10:18500840 [GRCh38]
Chr10:18789769 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly) single nucleotide variant Brugada syndrome 4 [RCV001247336] Chr10:18539477 [GRCh38]
Chr10:18828406 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.964A>T (p.Thr322Ser) single nucleotide variant Brugada syndrome 4 [RCV001216333] Chr10:18527607 [GRCh38]
Chr10:18816536 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.800A>G (p.Lys267Arg) single nucleotide variant Brugada syndrome 4 [RCV001037410]|not provided [RCV001507778] Chr10:18514365 [GRCh38]
Chr10:18803294 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1300C>T (p.Pro434Ser) single nucleotide variant Brugada syndrome 4 [RCV001054183] Chr10:18536194 [GRCh38]
Chr10:18825123 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro) single nucleotide variant Brugada syndrome 4 [RCV001038210]|not specified [RCV001527029] Chr10:18539558 [GRCh38]
Chr10:18828487 [GRCh37]
Chr10:10p12.31
likely benign|uncertain significance
NM_201596.3(CACNB2):c.908C>T (p.Ala303Val) single nucleotide variant Brugada syndrome 4 [RCV001054108] Chr10:18518932 [GRCh38]
Chr10:18807861 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1288G>T (p.Ala430Ser) single nucleotide variant Brugada syndrome 4 [RCV001069655] Chr10:18536182 [GRCh38]
Chr10:18825111 [GRCh37]
Chr10:10p12.31
uncertain significance
NC_000010.11:g.(?_18518326)_(18539734_?)dup duplication Brugada syndrome 4 [RCV001033760] Chr10:18807255..18828663 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1885A>G (p.Lys629Glu) single nucleotide variant Brugada syndrome 4 [RCV001232858] Chr10:18539626 [GRCh38]
Chr10:18828555 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.967G>T (p.Ala323Ser) single nucleotide variant Brugada syndrome 4 [RCV001211170] Chr10:18527610 [GRCh38]
Chr10:18816539 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr) single nucleotide variant Brugada syndrome 4 [RCV001332032] Chr10:18539653 [GRCh38]
Chr10:18828582 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.334-5T>G single nucleotide variant Brugada syndrome 4 [RCV001312453] Chr10:18498350 [GRCh38]
Chr10:18787279 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1363G>A (p.Asp455Asn) single nucleotide variant Brugada syndrome 4 [RCV001303453] Chr10:18538240 [GRCh38]
Chr10:18827169 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser) single nucleotide variant Brugada syndrome 4 [RCV001313342] Chr10:18498361 [GRCh38]
Chr10:18787290 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1150C>T (p.Leu384Phe) single nucleotide variant Brugada syndrome 4 [RCV001315837] Chr10:18534171 [GRCh38]
Chr10:18823100 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.899T>A (p.Met300Lys) single nucleotide variant Brugada syndrome 4 [RCV001326727] Chr10:18518923 [GRCh38]
Chr10:18807852 [GRCh37]
Chr10:10p12.31
uncertain significance
NC_000010.10:g.(?_18795390)_(18828653_?)dup duplication Brugada syndrome 4 [RCV001301564] Chr10:18795390..18828653 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1138C>T (p.His380Tyr) single nucleotide variant Brugada syndrome 4 [RCV001307751] Chr10:18534159 [GRCh38]
Chr10:18823088 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.328G>A (p.Ala110Thr) single nucleotide variant Brugada syndrome 4 [RCV001338769] Chr10:18402038 [GRCh38]
Chr10:18690967 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1021A>G (p.Ile341Val) single nucleotide variant Brugada syndrome 4 [RCV001305538] Chr10:18527664 [GRCh38]
Chr10:18816593 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1058_1060dup (p.Glu353dup) duplication Brugada syndrome 4 [RCV001320191] Chr10:18534077..18534078 [GRCh38]
Chr10:18823006..18823007 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1090C>T (p.Leu364Phe) single nucleotide variant Brugada syndrome 4 [RCV001299960] Chr10:18534111 [GRCh38]
Chr10:18823040 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-60940A>G single nucleotide variant Brugada syndrome 4 [RCV001304101] Chr10:18340984 [GRCh38]
Chr10:18629913 [GRCh37]
Chr10:10p12.32
uncertain significance
NM_201596.3(CACNB2):c.1049G>C (p.Ser350Thr) single nucleotide variant Brugada syndrome 4 [RCV001349604] Chr10:18527692 [GRCh38]
Chr10:18816621 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.631A>G (p.Ile211Val) single nucleotide variant Brugada syndrome 4 [RCV001318749] Chr10:18506508 [GRCh38]
Chr10:18795437 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1903T>C (p.Cys635Arg) single nucleotide variant Brugada syndrome 4 [RCV001297423] Chr10:18539644 [GRCh38]
Chr10:18828573 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1302+47_1302+51dup duplication not provided [RCV001536949] Chr10:18536242..18536243 [GRCh38]
Chr10:18825171..18825172 [GRCh37]
Chr10:10p12.31
benign
NM_201596.3(CACNB2):c.1831G>A (p.Asp611Asn) single nucleotide variant Brugada syndrome 4 [RCV001361443] Chr10:18539572 [GRCh38]
Chr10:18828501 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1694C>T (p.Ser565Phe) single nucleotide variant Brugada syndrome 4 [RCV001372508] Chr10:18539435 [GRCh38]
Chr10:18828364 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1687C>A (p.Arg563=) single nucleotide variant Brugada syndrome 4 [RCV001414739] Chr10:18539428 [GRCh38]
Chr10:18828357 [GRCh37]
Chr10:10p12.31
likely benign
NM_201596.3(CACNB2):c.456+24_456+25insTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAATAATTTCATTTTCT microsatellite Brugada syndrome 4 [RCV001369862] Chr10:18498485..18498486 [GRCh38]
Chr10:18787414..18787415 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.377G>T (p.Ser126Ile) single nucleotide variant Brugada syndrome 4 [RCV001369115] Chr10:18498398 [GRCh38]
Chr10:18787327 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-60983C>A single nucleotide variant Brugada syndrome 4 [RCV001414843] Chr10:18340941 [GRCh38]
Chr10:18629870 [GRCh37]
Chr10:10p12.32
likely benign
NM_201596.3(CACNB2):c.674T>C (p.Ile225Thr) single nucleotide variant Brugada syndrome 4 [RCV001373922] Chr10:18514239 [GRCh38]
Chr10:18803168 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.213+110356G>T single nucleotide variant not provided [RCV001354354] Chr10:18261331 [GRCh38]
Chr10:18550260 [GRCh37]
Chr10:10p12.33
uncertain significance
NM_201596.3(CACNB2):c.1293G>C (p.Gln431His) single nucleotide variant Brugada syndrome 4 [RCV001327228] Chr10:18536187 [GRCh38]
Chr10:18825116 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1208_1209insAAGT (p.Leu404fs) insertion Brugada syndrome 4 [RCV001293964] Chr10:18536100..18536101 [GRCh38]
Chr10:18825029..18825030 [GRCh37]
Chr10:10p12.31
pathogenic
NM_201596.3(CACNB2):c.1959C>G (p.Asn653Lys) single nucleotide variant Brugada syndrome 4 [RCV001345007] Chr10:18539700 [GRCh38]
Chr10:18828629 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1396C>G (p.Pro466Ala) single nucleotide variant Brugada syndrome 4 [RCV001345108] Chr10:18538273 [GRCh38]
Chr10:18827202 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1144G>C (p.Ala382Pro) single nucleotide variant Brugada syndrome 4 [RCV001346108] Chr10:18534165 [GRCh38]
Chr10:18823094 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.214-60970C>T single nucleotide variant Brugada syndrome 4 [RCV001310039] Chr10:18340954 [GRCh38]
Chr10:18629883 [GRCh37]
Chr10:10p12.32
uncertain significance
NM_201596.3(CACNB2):c.1769A>C (p.His590Pro) single nucleotide variant Brugada syndrome 4 [RCV001363391] Chr10:18539510 [GRCh38]
Chr10:18828439 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.895ATG[1] (p.Met300del) microsatellite Brugada syndrome 4 [RCV001339069] Chr10:18518919..18518921 [GRCh38]
Chr10:18807848..18807850 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1853A>T (p.His618Leu) single nucleotide variant Brugada syndrome 4 [RCV001363543] Chr10:18539594 [GRCh38]
Chr10:18828523 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.305A>G (p.Gln102Arg) single nucleotide variant Brugada syndrome 4 [RCV001345454] Chr10:18402015 [GRCh38]
Chr10:18690944 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala) single nucleotide variant Brugada syndrome 4 [RCV001322673] Chr10:18518358 [GRCh38]
Chr10:18807287 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1754A>G (p.His585Arg) single nucleotide variant Brugada syndrome 4 [RCV001340237] Chr10:18539495 [GRCh38]
Chr10:18828424 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1822_1833dup (p.Arg608_Asp611dup) duplication Brugada syndrome 4 [RCV001305065] Chr10:18539560..18539561 [GRCh38]
Chr10:18828489..18828490 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1436C>A (p.Thr479Lys) single nucleotide variant Brugada syndrome 4 [RCV001306551] Chr10:18538313 [GRCh38]
Chr10:18827242 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1571C>G (p.Pro524Arg) single nucleotide variant Brugada syndrome 4 [RCV001366662] Chr10:18539312 [GRCh38]
Chr10:18828241 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.673A>G (p.Ile225Val) single nucleotide variant Brugada syndrome 4 [RCV001325804] Chr10:18514238 [GRCh38]
Chr10:18803167 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.1682A>G (p.Glu561Gly) single nucleotide variant Brugada syndrome 4 [RCV001370430] Chr10:18539423 [GRCh38]
Chr10:18828352 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.314C>G (p.Ala105Gly) single nucleotide variant not provided [RCV001355029] Chr10:18402024 [GRCh38]
Chr10:18690953 [GRCh37]
Chr10:10p12.31
uncertain significance
NM_201596.3(CACNB2):c.448G>A (p.Val150Ile) single nucleotide variant Brugada syndrome 4 [RCV001352151] Chr10:18498469 [GRCh38]
Chr10:18787398 [GRCh37]
Chr10:10p12.31
uncertain significance