CAV3 (caveolin 3) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CAV3 (caveolin 3) Homo sapiens
Analyze
Symbol: CAV3
Name: caveolin 3
RGD ID: 1344208
HGNC Page HGNC:1529
Description: Enables several functions, including connexin binding activity; ion channel regulator activity; and transmembrane transporter binding activity. Involved in several processes, including negative regulation of cell size; regulation of metal ion transport; and regulation of muscle system process. Acts upstream of or within caveola assembly; negative regulation of calcium ion transport; and regulation of signal transduction. Located in endoplasmic reticulum and sarcolemma. Part of dystrophin-associated glycoprotein complex. Implicated in intrinsic cardiomyopathy (multiple); isolated elevated serum creatine phosphokinase levels; and muscle tissue disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: caveolin-3; cavolin 3; LGMD1C; LQT9; M-caveolin; MGC126100; MGC126101; MGC126129; MPDT; RMD2; VIP-21; VIP21
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
GRCh3838,733,802 - 8,746,758 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl38,733,802 - 8,841,808 (+)EnsemblGRCh38hg38GRCh38
GRCh3738,775,488 - 8,788,444 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3638,750,496 - 8,763,451 (+)NCBINCBI36Build 36hg18NCBI36
Build 3438,750,495 - 8,763,450NCBI
Celera38,710,271 - 8,723,238 (+)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef38,709,553 - 8,722,499 (+)NCBIHuRef
CHM1_138,725,885 - 8,738,871 (+)NCBICHM1_1
T2T-CHM13v2.038,724,971 - 8,737,928 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament organization  (IEA,ISO)
calcium ion transport  (IEA,ISO)
cardiac muscle cell development  (IEA,ISO)
cardiac muscle hypertrophy  (IEA,ISO)
caveola assembly  (IBA,IDA,IEA)
cell differentiation  (IBA,IEA,ISO,ISS)
cellular response to organonitrogen compound  (IEA,ISO)
cholesterol homeostasis  (IEA,ISO,ISS)
cytoplasmic microtubule organization  (IEA,ISO)
detection of muscle stretch  (IEA,ISS)
endocytosis  (IEA,ISO,ISS)
establishment of localization in cell  (IEA,ISO)
glucose homeostasis  (IEA,ISO,ISS)
heart trabecula formation  (IEA,ISO)
MAPK cascade  (IEA,ISO)
membrane raft organization  (IEA,ISO,ISS)
muscle organ development  (TAS)
myoblast fusion  (IEA,ISO)
myotube differentiation  (IEA,ISO)
negative regulation of calcium ion transport  (IDA,IEA)
negative regulation of cardiac muscle hypertrophy  (IEA,IMP,ISO)
negative regulation of cell growth involved in cardiac muscle cell development  (IEA,ISO)
negative regulation of cell size  (IMP)
negative regulation of MAP kinase activity  (IMP)
negative regulation of MAPK cascade  (IEA,ISO,ISS)
negative regulation of membrane depolarization during cardiac muscle cell action potential  (IEA)
negative regulation of nitric-oxide synthase activity  (IEA,ISO,ISS)
negative regulation of potassium ion transmembrane transport  (IEA,ISS)
negative regulation of potassium ion transmembrane transporter activity  (IEA,ISS)
negative regulation of protein kinase activity  (IEA,ISO,ISS)
negative regulation of protein localization to cell surface  (NAS)
negative regulation of sarcomere organization  (IMP)
nucleus localization  (IEA,ISO)
plasma membrane organization  (IEA,ISO,ISS)
plasma membrane repair  (IEA,ISO)
positive regulation of caveolin-mediated endocytosis  (IEA)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO,ISS)
positive regulation of microtubule polymerization  (IEA,ISO,ISS)
positive regulation of myotube differentiation  (IEA,ISO)
positive regulation of ubiquitin-dependent protein catabolic process  (NAS)
protein localization  (IEA,ISO,ISS)
protein localization to plasma membrane  (IEA,ISO,ISS)
regulation of branching involved in mammary gland duct morphogenesis  (IEA,ISO)
regulation of calcium ion import  (IDA)
regulation of calcium ion transmembrane transporter activity  (IDA)
regulation of calcium ion transport  (IEA,ISO)
regulation of cardiac muscle cell action potential involved in regulation of contraction  (IMP)
regulation of cardiac muscle contraction  (IMP)
regulation of cytosolic calcium ion concentration  (IBA)
regulation of heart contraction  (ISS)
regulation of heart rate  (IMP)
regulation of membrane depolarization during cardiac muscle cell action potential  (IBA,IMP)
regulation of membrane potential  (IDA,IEA,ISO)
regulation of nerve growth factor receptor activity  (IMP)
regulation of p38MAPK cascade  (IEA,ISO)
regulation of protein kinase B signaling  (IEA,ISO)
regulation of signal transduction by receptor internalization  (IMP)
regulation of skeletal muscle contraction  (IMP)
regulation of sodium ion transmembrane transporter activity  (IDA)
regulation of transforming growth factor beta receptor signaling pathway  (IEA,ISO)
regulation of ventricular cardiac muscle cell membrane depolarization  (IDA)
regulation of ventricular cardiac muscle cell membrane repolarization  (IMP)
response to hypoxia  (IEA,ISO)
response to ischemia  (IEA,ISO)
T-tubule organization  (TAS)
triglyceride metabolic process  (IEA,ISO,ISS)
ventricular cardiac muscle cell action potential  (IEA,ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cardiac exercise stress test  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal muscle fiber morphology  (IAGP)
Abnormal muscle fiber protein expression  (IAGP)
Abnormal T-wave  (IAGP)
Abnormal U wave  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Abnormality of the musculature  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Asymmetric septal hypertrophy  (IAGP)
Autosomal dominant inheritance  (IAGP)
Calf muscle hypertrophy  (IAGP)
Calf muscle hypoplasia  (IAGP)
Calf muscle pseudohypertrophy  (IAGP)
Cardiac arrest  (IAGP)
Cardiomyopathy  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Chest pain  (IAGP)
Clumsiness  (IAGP)
Congestive heart failure  (IAGP)
Distal sensory impairment  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated creatine kinase after exercise  (IAGP)
EMG abnormality  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Exercise-induced muscle cramps  (IAGP)
Exercise-induced muscle stiffness  (IAGP)
Exercise-induced myalgia  (IAGP)
Fatigue  (IAGP)
Gowers sign  (IAGP)
Hand muscle weakness  (IAGP)
Hearing impairment  (IAGP)
Hypercholesterolemia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypokalemia  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased muscle fatiguability  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Inflammatory myopathy  (IAGP)
Intrinsic hand muscle atrophy  (IAGP)
Juvenile onset  (IAGP)
Late young adult onset  (IAGP)
Limb-girdle muscular dystrophy  (IAGP)
Mitochondrial myopathy  (IAGP)
Muscle hyperirritability  (IAGP)
Muscle mounding  (IAGP)
Muscle spasm  (IAGP)
Muscular dystrophy  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Neck flexor weakness  (IAGP)
Neck muscle weakness  (IAGP)
Palpitations  (IAGP)
Percussion-induced rapid rolling muscle contractions  (IAGP)
Pes cavus  (IAGP)
Phenotypic abnormality  (IAGP)
Progressive distal muscle weakness  (IAGP)
Progressive pes cavus  (IAGP)
Prolonged QT interval  (IAGP)
Prolonged QTc interval  (IAGP)
Proximal muscle weakness  (IAGP)
Seizure  (IAGP)
Sinus bradycardia  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Sudden cardiac death  (IAGP)
Sudden death  (IAGP)
Syncope  (IAGP)
Tip-toe gait  (IAGP)
Torsade de pointes  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Ventricular arrhythmia  (IAGP)
Weakness of the intrinsic hand muscles  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Minetti C, etal., Nat Genet. 1998 Apr;18(4):365-8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Caveolin-1 and -3 dissociations from caveolae to cytosol in the heart during aging and after myocardial infarction in rat. Ratajczak P, etal., Cardiovasc Res. 2003 Feb;57(2):358-69.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Expression of caveolin-1, -2, and -3 in the spinal cords of Lewis rats with experimental autoimmune encephalomyelitis. Shin T, etal., J Neuroimmunol. 2005 Aug;165(1-2):11-20.
11. FAT10 attenuates hypoxia-induced cardiomyocyte apoptosis by stabilizing caveolin-3. Zhou Q, etal., J Mol Cell Cardiol. 2018 Mar;116:115-124. doi: 10.1016/j.yjmcc.2018.02.008. Epub 2018 Feb 10.
Additional References at PubMed
PMID:7797570   PMID:8567687   PMID:9252390   PMID:9353265   PMID:9374534   PMID:9536092   PMID:9545514   PMID:9756945   PMID:10066366   PMID:10386585   PMID:10746614   PMID:10835421  
PMID:10988290   PMID:11001938   PMID:11115849   PMID:11251997   PMID:11431690   PMID:11532985   PMID:11756609   PMID:11805270   PMID:11821059   PMID:11884389   PMID:11904769   PMID:12082049  
PMID:12387816   PMID:12477932   PMID:12557291   PMID:12648214   PMID:12666119   PMID:12839838   PMID:12847114   PMID:12939441   PMID:14600260   PMID:14663034   PMID:14672715   PMID:14729862  
PMID:14749532   PMID:14981167   PMID:15099591   PMID:15489334   PMID:15541368   PMID:15564037   PMID:15580566   PMID:15668980   PMID:15682833   PMID:15703204   PMID:16082247   PMID:16247063  
PMID:16458928   PMID:16479074   PMID:16521037   PMID:16563233   PMID:16770780   PMID:17039257   PMID:17060380   PMID:17210839   PMID:17275750   PMID:17307729   PMID:17405141   PMID:17524427  
PMID:17537631   PMID:17615539   PMID:18253147   PMID:18487559   PMID:18509671   PMID:18583131   PMID:18671188   PMID:18930476   PMID:18936328   PMID:18985008   PMID:19101541   PMID:19219452  
PMID:19238754   PMID:19380584   PMID:19481058   PMID:19544087   PMID:19584897   PMID:19726876   PMID:19773168   PMID:19913121   PMID:20201926   PMID:20229577   PMID:20301308   PMID:20301559  
PMID:20301582   PMID:20301725   PMID:20346360   PMID:20472890   PMID:20558763   PMID:20628086   PMID:21084288   PMID:21294223   PMID:21362533   PMID:21362625   PMID:21496630   PMID:21873635  
PMID:21988832   PMID:22236542   PMID:22792322   PMID:22879586   PMID:23071107   PMID:23237801   PMID:23311301   PMID:23465283   PMID:23541953   PMID:23640888   PMID:24021552   PMID:24327205  
PMID:24567387   PMID:24917393   PMID:25556234   PMID:25630502   PMID:25757662   PMID:26086601   PMID:26185955   PMID:26497963   PMID:26859249   PMID:27276265   PMID:27312022   PMID:27739254  
PMID:27810898   PMID:27863830   PMID:28232187   PMID:28298427   PMID:28514442   PMID:28648120   PMID:28648645   PMID:28898996   PMID:29326130   PMID:30588629   PMID:30958599   PMID:31036801  
PMID:31343991   PMID:32004987   PMID:32109845   PMID:32296183   PMID:32814053   PMID:33228026   PMID:33486968   PMID:33961781   PMID:35378081   PMID:36279179   PMID:36989524  


Genomics

Comparative Map Data
CAV3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3838,733,802 - 8,746,758 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl38,733,802 - 8,841,808 (+)EnsemblGRCh38hg38GRCh38
GRCh3738,775,488 - 8,788,444 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3638,750,496 - 8,763,451 (+)NCBINCBI36Build 36hg18NCBI36
Build 3438,750,495 - 8,763,450NCBI
Celera38,710,271 - 8,723,238 (+)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef38,709,553 - 8,722,499 (+)NCBIHuRef
CHM1_138,725,885 - 8,738,871 (+)NCBICHM1_1
T2T-CHM13v2.038,724,971 - 8,737,928 (+)NCBIT2T-CHM13v2.0
Cav3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396112,436,466 - 112,449,833 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6112,436,466 - 112,449,833 (+)EnsemblGRCm39 Ensembl
GRCm386112,459,505 - 112,472,872 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6112,459,505 - 112,472,872 (+)EnsemblGRCm38mm10GRCm38
MGSCv376112,409,499 - 112,422,866 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366112,425,278 - 112,438,649 (+)NCBIMGSCv36mm8
Celera6114,297,536 - 114,310,896 (+)NCBICelera
Cytogenetic Map6E3NCBI
cM Map652.26NCBI
Cav3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24145,582,168 - 145,598,142 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4145,582,060 - 145,598,137 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4150,974,343 - 150,990,337 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.04146,755,146 - 146,771,143 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.04145,376,415 - 145,392,431 (+)NCBIRnor_WKY
Rnor_6.04144,382,945 - 144,398,919 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4144,382,945 - 144,398,917 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04207,683,202 - 207,699,176 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44148,294,428 - 148,310,380 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14148,539,268 - 148,555,221 (+)NCBI
Celera4134,152,488 - 134,168,462 (+)NCBICelera
Cytogenetic Map4q41NCBI
Cav3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955561325,944 - 335,914 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955561326,008 - 335,911 (+)NCBIChiLan1.0ChiLan1.0
CAV3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan138,748,826 - 8,765,179 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v038,684,829 - 8,697,731 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.138,928,069 - 8,940,942 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl38,928,069 - 8,940,942 (+)Ensemblpanpan1.1panPan2
CAV3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1209,384,901 - 9,398,055 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl209,384,901 - 9,401,196 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha209,418,382 - 9,431,544 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0209,414,987 - 9,428,087 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl209,414,987 - 9,428,087 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1209,136,869 - 9,150,024 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0209,481,732 - 9,494,836 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0209,455,880 - 9,468,982 (-)NCBIUU_Cfam_GSD_1.0
Cav3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494214,631,527 - 14,644,827 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366024,264,889 - 4,278,161 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049366024,264,896 - 4,278,160 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAV3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1365,117,795 - 65,131,273 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11365,117,868 - 65,130,886 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21372,400,156 - 72,412,174 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CAV3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12244,726,597 - 44,740,456 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2244,727,624 - 44,740,459 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041121,826,639 - 121,839,504 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cav3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247313,347,984 - 3,364,581 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247313,348,172 - 3,363,772 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAV3
307 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033337.3(CAV3):c.(114+1_115-1)_(*1_?)del deletion not provided [RCV000024441] Chr3:8745525..8745868 [GRCh38]
Chr3:8787211..8810000 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.2(CAV3):c.(?_-67)_(*898_?)del deletion not provided [RCV000024442] Chr3:8733810..8746765 [GRCh38]
Chr3:8775496..8788451 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del) deletion Rippling muscle disease 2 [RCV000008767]|not provided [RCV000024380] Chr3:8745597..8745605 [GRCh38]
Chr3:8787286..8787294 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|not provided
NM_033337.3(CAV3):c.290_292del (p.Phe97del) deletion Elevated circulating creatine kinase concentration [RCV000008781]|Rippling muscle disease 2 [RCV000008782]|not provided [RCV000024390] Chr3:8745699..8745701 [GRCh38]
Chr3:8787385..8787387 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) single nucleotide variant Caveolinopathy [RCV001150160]|Primary familial hypertrophic cardiomyopathy [RCV000008785]|not provided [RCV000024395] Chr3:8745602 [GRCh38]
Chr3:8787288 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu) single nucleotide variant Rippling muscle disease 2 [RCV000008765]|not provided [RCV000024379] Chr3:8745725 [GRCh38]
Chr3:8787411 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|not provided
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) single nucleotide variant Cardiomyopathy [RCV001171080]|Cardiovascular phenotype [RCV000249765]|Caveolinopathy [RCV001150159]|Elevated circulating creatine kinase concentration [RCV002496306]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000362621]|Limb-girdle muscular dystrophy [RCV000171805]|Long QT syndrome 1 [RCV000987086]|Long QT syndrome [RCV001082614]|Rippling muscle disease 2 [RCV000008768]|not provided [RCV000119393]|not specified [RCV000039799] Chr3:8745577 [GRCh38]
Chr3:8787263 [GRCh37]
Chr3:3p25.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) single nucleotide variant Cardiomyopathy [RCV000769171]|Cardiovascular phenotype [RCV000249612]|Caveolinopathy [RCV001144018]|Elevated circulating creatine kinase concentration [RCV000477819]|Limb-girdle muscular dystrophy [RCV000171752]|Long QT syndrome 1 [RCV000987087]|Long QT syndrome [RCV001084478]|Rippling muscle disease 2 [RCV000008769]|not provided [RCV000024381]|not specified [RCV000150236] Chr3:8745627 [GRCh38]
Chr3:8787313 [GRCh37]
Chr3:3p25.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_033337.3(CAV3):c.84C>A (p.Asp28Glu) single nucleotide variant Rippling muscle disease 2 [RCV000008770]|not provided [RCV000024386] Chr3:8733960 [GRCh38]
Chr3:8775646 [GRCh37]
Chr3:3p25.3		 pathogenic|not provided
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) single nucleotide variant Cardiovascular phenotype [RCV002381245]|Elevated circulating creatine kinase concentration [RCV000008774]|Long QT syndrome [RCV001384920]|Rippling muscle disease 2 [RCV000008772]|not provided [RCV000024382] Chr3:8745547 [GRCh38]
Chr3:8787233 [GRCh37]
Chr3:3p25.3		 pathogenic|not provided
NM_033337.3(CAV3):c.137C>T (p.Ala46Val) single nucleotide variant Rippling muscle disease 2 [RCV000008775]|not provided [RCV000024383] Chr3:8745548 [GRCh38]
Chr3:8787234 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|not provided
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) single nucleotide variant Distal myopathy, Tateyama type [RCV000023083]|Elevated circulating creatine kinase concentration [RCV000008777]|Elevated circulating creatine kinase concentration [RCV002490340]|Long QT syndrome [RCV000527324]|Rippling muscle disease 2 [RCV000008778]|not provided [RCV000408119] Chr3:8733956 [GRCh38]
Chr3:8775642 [GRCh37]
Chr3:3p25.3		 pathogenic
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro) single nucleotide variant Long QT syndrome [RCV000458893]|Rippling muscle disease 2 [RCV000008779]|SUDDEN INFANT DEATH SYNDROME [RCV001787372]|not provided [RCV000024387] Chr3:8745671 [GRCh38]
Chr3:8787357 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) single nucleotide variant Cardiovascular phenotype [RCV000622234]|Long QT syndrome [RCV000234612]|Rippling muscle disease 2 [RCV000826098]|Rippling muscle disease 2, autosomal recessive [RCV000008780]|not provided [RCV000024388] Chr3:8745688 [GRCh38]
Chr3:8787374 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu) single nucleotide variant Elevated circulating creatine kinase concentration [RCV000008784]|not provided [RCV000024389] Chr3:8733962 [GRCh38]
Chr3:8775648 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|not provided
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys) single nucleotide variant Distal myopathy, Tateyama type [RCV000008786]|Long QT syndrome [RCV001212042] Chr3:8733975 [GRCh38]
Chr3:8775661 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys) single nucleotide variant Rippling muscle disease 2 [RCV000008787]|not provided [RCV000024416] Chr3:8745550 [GRCh38]
Chr3:8787236 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) single nucleotide variant Long QT syndrome 9 [RCV000008788]|not provided [RCV000024432] Chr3:8745834 [GRCh38]
Chr3:8787520 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|not provided
NM_033337.3(CAV3):c.290T>G (p.Phe97Cys) single nucleotide variant Long QT syndrome 9, acquired, susceptibility to [RCV000008789]|not provided [RCV000024431] Chr3:8745701 [GRCh38]
Chr3:8787387 [GRCh37]
Chr3:3p25.3		 likely pathogenic|risk factor|not provided
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) single nucleotide variant Cardiomyopathy [RCV000769173]|Cardiovascular phenotype [RCV000242756]|Caveolinopathy [RCV001144019]|Long QT syndrome 1 [RCV000987088]|Long QT syndrome 2/9, digenic [RCV000008791]|Long QT syndrome 9 [RCV000008790]|Long QT syndrome [RCV000168328]|not provided [RCV000024406]|not specified [RCV000039801] Chr3:8745644 [GRCh38]
Chr3:8787330 [GRCh37]
Chr3:3p25.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) single nucleotide variant Long QT syndrome 9 [RCV000008792]|not provided [RCV000024430] Chr3:8745664 [GRCh38]
Chr3:8787350 [GRCh37]
Chr3:3p25.3		 pathogenic|not provided
NM_033337.3(CAV3):c.40G>C (p.Val14Leu) single nucleotide variant Long QT syndrome 9 [RCV000008793]|not provided [RCV000024433] Chr3:8733916 [GRCh38]
Chr3:8775602 [GRCh37]
Chr3:3p25.3		 pathogenic|not provided
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) single nucleotide variant Long QT syndrome 9 [RCV000008794]|Long QT syndrome [RCV001246513]|not provided [RCV000024434] Chr3:8745647 [GRCh38]
Chr3:8787333 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.*645A>T single nucleotide variant Caveolinopathy [RCV000283263]|Congenital long QT syndrome [RCV000323134]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000286772]|not provided [RCV000024384] Chr3:8746512 [GRCh38]
Chr3:8788198 [GRCh37]
Chr3:3p25.3		 benign|likely benign|not provided
NM_033337.3(CAV3):c.*811C>G single nucleotide variant Caveolinopathy [RCV000341746]|Congenital long QT syndrome [RCV000289056]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000347204]|not provided [RCV000024385] Chr3:8746678 [GRCh38]
Chr3:8788364 [GRCh37]
Chr3:3p25.3		 benign|likely benign|not provided
NM_033337.3(CAV3):c.169G>A (p.Val57Met) single nucleotide variant Cardiomyopathy [RCV001171082]|Long QT syndrome [RCV000706810]|not provided [RCV000024391] Chr3:8745580 [GRCh38]
Chr3:8787266 [GRCh37]
Chr3:3p25.3		 likely pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.99C>T (p.Asn33=) single nucleotide variant Cardiovascular phenotype [RCV000243559]|Caveolinopathy [RCV000369159]|Congenital long QT syndrome [RCV000314528]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000280736]|Long QT syndrome [RCV000401708]|not provided [RCV000024392]|not specified [RCV000039807] Chr3:8733975 [GRCh38]
Chr3:8775661 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_033337.3(CAV3):c.168C>A (p.Gly56=) single nucleotide variant Cardiomyopathy [RCV001171081]|Long QT syndrome [RCV001444800]|not provided [RCV000024393] Chr3:8745579 [GRCh38]
Chr3:8787265 [GRCh37]
Chr3:3p25.3		 benign|likely benign|not provided
NM_033337.3(CAV3):c.204C>A (p.Ser68=) single nucleotide variant Cardiomyopathy [RCV000769170]|Cardiovascular phenotype [RCV000621014]|Caveolinopathy [RCV001144017]|Long QT syndrome [RCV001087197]|not provided [RCV000024394]|not specified [RCV000155788] Chr3:8745615 [GRCh38]
Chr3:8787301 [GRCh37]
Chr3:3p25.3		 benign|likely benign|not provided
NM_033337.3(CAV3):c.85C>A (p.Pro29Thr) single nucleotide variant not provided [RCV000024396] Chr3:8733961 [GRCh38]
Chr3:8775647 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.377G>A (p.Arg126His) single nucleotide variant Long QT syndrome [RCV000813953]|not provided [RCV000024397] Chr3:8745788 [GRCh38]
Chr3:8787474 [GRCh37]
Chr3:3p25.3		 uncertain significance|not provided
NM_033337.3(CAV3):c.171G>A (p.Val57=) single nucleotide variant Cardiomyopathy [RCV000769169]|Cardiovascular phenotype [RCV000251608]|Caveolinopathy [RCV000322919]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000267755]|Long QT syndrome [RCV000233807]|not provided [RCV000024398]|not specified [RCV000039800] Chr3:8745582 [GRCh38]
Chr3:8787268 [GRCh37]
Chr3:3p25.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_033337.3(CAV3):c.190A>C (p.Thr64Pro) single nucleotide variant not provided [RCV000024399] Chr3:8745601 [GRCh38]
Chr3:8787287 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.27C>T (p.Leu9=) single nucleotide variant Cardiovascular phenotype [RCV000241900]|Caveolinopathy [RCV000339745]|Congenital long QT syndrome [RCV000379199]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000397797]|Long QT syndrome [RCV000284784]|Rippling muscle disease 2 [RCV000576516]|not provided [RCV000024400]|not specified [RCV000039803] Chr3:8733903 [GRCh38]
Chr3:8775589 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_033337.3(CAV3):c.123T>C (p.Phe41=) single nucleotide variant Cardiovascular phenotype [RCV000246688]|Caveolinopathy [RCV000366101]|Congenital long QT syndrome [RCV000271441]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000393888]|Long QT syndrome [RCV000310948]|not provided [RCV000024401]|not specified [RCV000039797] Chr3:8745534 [GRCh38]
Chr3:8787220 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_033337.3(CAV3):c.*543T>C single nucleotide variant Caveolinopathy [RCV000354374]|Congenital long QT syndrome [RCV000259430]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000314609]|not provided [RCV000024402] Chr3:8746410 [GRCh38]
Chr3:8788096 [GRCh37]
Chr3:3p25.3		 benign|likely benign|not provided
NM_033337.3(CAV3):c.*740C>G single nucleotide variant not provided [RCV000024403] Chr3:8746607 [GRCh38]
Chr3:8788293 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.*783A>G single nucleotide variant Caveolinopathy [RCV000294459]|Congenital long QT syndrome [RCV000396877]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000347017]|not provided [RCV000024404] Chr3:8746650 [GRCh38]
Chr3:8788336 [GRCh37]
Chr3:3p25.3		 benign|likely benign|not provided
NM_033337.3(CAV3):c.170T>G (p.Val57Gly) single nucleotide variant not provided [RCV000024405] Chr3:8745581 [GRCh38]
Chr3:8787267 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly) single nucleotide variant Long QT syndrome [RCV002513227]|not provided [RCV000024407] Chr3:8733955 [GRCh38]
Chr3:8775641 [GRCh37]
Chr3:3p25.3		 pathogenic|not provided
NM_033337.3(CAV3):c.114+26G>A single nucleotide variant not provided [RCV000024408] Chr3:8734016 [GRCh38]
Chr3:8775702 [GRCh37]
Chr3:3p25.3		 benign|not provided
NM_033337.3(CAV3):c.114+99T>C single nucleotide variant not provided [RCV000024409] Chr3:8734089 [GRCh38]
Chr3:8775775 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.115-89G>T single nucleotide variant not provided [RCV000024410] Chr3:8745437 [GRCh38]
Chr3:8787123 [GRCh37]
Chr3:3p25.3		 benign|not provided
NM_033337.2(CAV3):c.-122C>T single nucleotide variant not provided [RCV000024411] Chr3:8733755 [GRCh38]
Chr3:8775441 [GRCh37]
Chr3:3p25.3		 benign|not provided
NM_033337.2(CAV3):c.*932T>A single nucleotide variant not provided [RCV000024412] Chr3:8746799 [GRCh38]
Chr3:8788485 [GRCh37]
Chr3:3p25.3		 benign|not provided
NM_033337.2(CAV3):c.*937C>A single nucleotide variant not provided [RCV000024413] Chr3:8746804 [GRCh38]
Chr3:8788490 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.183C>A (p.Ser61Arg) single nucleotide variant not provided [RCV000024414] Chr3:8745594 [GRCh38]
Chr3:8787280 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys) single nucleotide variant Cardiomyopathy [RCV000770194]|Long QT syndrome [RCV000560643]|Rippling muscle disease 2 [RCV000234023]|not provided [RCV000024415] Chr3:8733976 [GRCh38]
Chr3:8775662 [GRCh37]
Chr3:3p25.3		 likely pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.298A>T (p.Ile100Phe) single nucleotide variant not provided [RCV000024417] Chr3:8745709 [GRCh38]
Chr3:8787395 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.131T>A (p.Val44Glu) single nucleotide variant not provided [RCV000024418] Chr3:8745542 [GRCh38]
Chr3:8787228 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.157A>G (p.Ser53Gly) single nucleotide variant not provided [RCV000024419] Chr3:8745568 [GRCh38]
Chr3:8787254 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg) single nucleotide variant Long QT syndrome [RCV001852570]|not provided [RCV000024420] Chr3:8745712 [GRCh38]
Chr3:8787398 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_033337.3(CAV3):c.172T>C (p.Trp58Arg) single nucleotide variant not provided [RCV000024421] Chr3:8745583 [GRCh38]
Chr3:8787269 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.115-45_115-29del deletion not provided [RCV000024422]|not specified [RCV000245848] Chr3:8745479..8745495 [GRCh38]
Chr3:8787165..8787181 [GRCh37]
Chr3:3p25.3		 benign|likely benign|not provided
NM_033337.3(CAV3):c.115-23G>C single nucleotide variant not provided [RCV000024423]|not specified [RCV000254045] Chr3:8745503 [GRCh38]
Chr3:8787189 [GRCh37]
Chr3:3p25.3		 benign|not provided
NM_033337.3(CAV3):c.137C>A (p.Ala46Glu) single nucleotide variant not provided [RCV000024424] Chr3:8745548 [GRCh38]
Chr3:8787234 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.-37G>A single nucleotide variant Caveolinopathy [RCV000331722]|Congenital long QT syndrome [RCV000391443]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000276614]|Tip-toe gait [RCV002226447]|not provided [RCV000024425]|not specified [RCV000157711] Chr3:8733840 [GRCh38]
Chr3:8775526 [GRCh37]
Chr3:3p25.3		 likely pathogenic|benign|uncertain significance|not provided
NM_033337.3(CAV3):c.114+2T>C single nucleotide variant Elevated circulating creatine kinase concentration [RCV002496441]|Long QT syndrome [RCV001238633]|not provided [RCV000024426] Chr3:8733992 [GRCh38]
Chr3:8775678 [GRCh37]
Chr3:3p25.3		 pathogenic|not provided
NM_033337.3(CAV3):c.212G>A (p.Trp71Ter) single nucleotide variant not provided [RCV000024427] Chr3:8745623 [GRCh38]
Chr3:8787309 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.307_312del (p.Val103_Val104del) deletion not provided [RCV000024428] Chr3:8745717..8745722 [GRCh38]
Chr3:8787403..8787408 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.158G>A (p.Ser53Asn) single nucleotide variant not provided [RCV000024429] Chr3:8745569 [GRCh38]
Chr3:8787255 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.140A>C (p.Glu47Ala) single nucleotide variant not provided [RCV000024435] Chr3:8745551 [GRCh38]
Chr3:8787237 [GRCh37]
Chr3:3p25.3		 likely pathogenic|not provided
NM_033337.3(CAV3):c.141G>T (p.Glu47Asp) single nucleotide variant not provided [RCV000024436] Chr3:8745552 [GRCh38]
Chr3:8787238 [GRCh37]
Chr3:3p25.3		 likely pathogenic|not provided
NM_033337.2(CAV3):c.-106G>A single nucleotide variant not provided [RCV000024437] Chr3:8733771 [GRCh38]
Chr3:8775457 [GRCh37]
Chr3:3p25.3		 benign|not provided
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) single nucleotide variant Long QT syndrome [RCV002513228]|not provided [RCV000024438] Chr3:8733956 [GRCh38]
Chr3:8775642 [GRCh37]
Chr3:3p25.3		 likely pathogenic|not provided
NM_033337.3(CAV3):c.218A>G (p.Tyr73Cys) single nucleotide variant not provided [RCV000024439] Chr3:8745629 [GRCh38]
Chr3:8787315 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.136G>T (p.Ala46Ser) single nucleotide variant not provided [RCV000024440] Chr3:8745547 [GRCh38]
Chr3:8787233 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.417C>T (p.Val139=) single nucleotide variant Cardiomyopathy [RCV000029456]|Cardiovascular phenotype [RCV000620134]|Caveolinopathy [RCV000349095]|Congenital long QT syndrome [RCV000402310]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000399401]|Long QT syndrome [RCV000226274]|not provided [RCV000379233]|not specified [RCV001699183] Chr3:8745828 [GRCh38]
Chr3:8787514 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.-1G>A single nucleotide variant Cardiovascular phenotype [RCV000621195]|not provided [RCV000586122]|not specified [RCV000039795] Chr3:8733876 [GRCh38]
Chr3:8775562 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.115-13G>C single nucleotide variant Long QT syndrome [RCV002054771]|not provided [RCV001719760]|not specified [RCV000039796] Chr3:8745513 [GRCh38]
Chr3:8787199 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.144T>C (p.Pro48=) single nucleotide variant Cardiovascular phenotype [RCV000620334]|Long QT syndrome [RCV000874336]|not specified [RCV000039798] Chr3:8745555 [GRCh38]
Chr3:8787241 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.276C>T (p.Phe92=) single nucleotide variant Cardiomyopathy [RCV000769175]|Cardiovascular phenotype [RCV000622151]|Caveolinopathy [RCV001144020]|Long QT syndrome [RCV001085894]|not provided [RCV000725467]|not specified [RCV000039802] Chr3:8745687 [GRCh38]
Chr3:8787373 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.306G>A (p.Ala102=) single nucleotide variant Cardiovascular phenotype [RCV000618985]|Long QT syndrome [RCV000228312]|not provided [RCV001711154]|not specified [RCV000039804] Chr3:8745717 [GRCh38]
Chr3:8787403 [GRCh37]
Chr3:3p25.3		 benign|likely benign|uncertain significance
NM_033337.3(CAV3):c.336C>T (p.Ile112=) single nucleotide variant Cardiomyopathy [RCV000769176]|Cardiovascular phenotype [RCV000245826]|Caveolinopathy [RCV001144021]|Elevated circulating creatine kinase concentration [RCV002490551]|Long QT syndrome [RCV001084064]|not provided [RCV000232287]|not specified [RCV000039805] Chr3:8745747 [GRCh38]
Chr3:8787433 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.444G>A (p.Arg148=) single nucleotide variant Long QT syndrome [RCV000551053]|not provided [RCV001642567]|not specified [RCV000039806] Chr3:8745855 [GRCh38]
Chr3:8787541 [GRCh37]
Chr3:3p25.3		 benign|likely benign
GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1 copy number loss See cases [RCV000051476] Chr3:63843..9507969 [GRCh38]
Chr3:105526..9549653 [GRCh37]
Chr3:80526..9524653 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.1-25.3(chr3:7400936-9450451)x1 copy number loss See cases [RCV000051479] Chr3:7400936..9450451 [GRCh38]
Chr3:7442623..9492135 [GRCh37]
Chr3:7417623..9467135 [NCBI36]
Chr3:3p26.1-25.3		 pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480] Chr3:8581778..12015238 [GRCh38]
Chr3:8623464..12056738 [GRCh37]
Chr3:8598464..12031738 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.1-25.3(chr3:7975734-9038133)x3 copy number gain See cases [RCV000051434] Chr3:7975734..9038133 [GRCh38]
Chr3:8017421..9079817 [GRCh37]
Chr3:7992421..9054817 [NCBI36]
Chr3:3p26.1-25.3		 uncertain significance
GRCh38/hg38 3p26.1-25.3(chr3:8091665-8742586)x3 copy number gain See cases [RCV000051435] Chr3:8091665..8742586 [GRCh38]
Chr3:8133352..8784272 [GRCh37]
Chr3:8108352..8759272 [NCBI36]
Chr3:3p26.1-25.3		 uncertain significance
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
NM_033337.3(CAV3):c.109G>C (p.Val37Leu) single nucleotide variant Long QT syndrome [RCV000477181]|not provided [RCV000723742] Chr3:8733985 [GRCh38]
Chr3:8775671 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) single nucleotide variant Cardiomyopathy [RCV001171084]|Cardiovascular phenotype [RCV002326800]|Caveolinopathy [RCV001145924]|Long QT syndrome [RCV001082889]|not provided [RCV000723725]|not specified [RCV000157842] Chr3:8745854 [GRCh38]
Chr3:8787540 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.233C>A (p.Thr78Lys) single nucleotide variant not provided [RCV000119382] Chr3:8745644 [GRCh38]
Chr3:8787330 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.13dup (p.Glu5fs) duplication not provided [RCV000119392] Chr3:8733888..8733889 [GRCh38]
Chr3:8775574..8775575 [GRCh37]
Chr3:3p25.3		 not provided
NM_033337.3(CAV3):c.201C>A (p.Val67=) single nucleotide variant Cardiovascular phenotype [RCV000251007]|Caveolinopathy [RCV001150161]|Long QT syndrome [RCV001079520]|not provided [RCV000724964]|not specified [RCV000156261] Chr3:8745612 [GRCh38]
Chr3:8787298 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.-15C>A single nucleotide variant not specified [RCV000154691] Chr3:8733862 [GRCh38]
Chr3:8775548 [GRCh37]
Chr3:3p25.3		 benign|not provided
NM_033337.3(CAV3):c.30G>A (p.Glu10=) single nucleotide variant Cardiovascular phenotype [RCV002321609]|Long QT syndrome [RCV001486078]|not specified [RCV000124130] Chr3:8733906 [GRCh38]
Chr3:8775592 [GRCh37]
Chr3:3p25.3		 benign|likely benign
NM_033337.3(CAV3):c.272T>C (p.Leu91Pro) single nucleotide variant Long QT syndrome [RCV001349037] Chr3:8745683 [GRCh38]
Chr3:8787369 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.-2C>T single nucleotide variant Cardiomyopathy [RCV000770192]|not provided [RCV000724736]|not specified [RCV000173548] Chr3:8733875 [GRCh38]
Chr3:8775561 [GRCh37]
Chr3:3p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3 copy number gain See cases [RCV000133877] Chr3:7401136..8995777 [GRCh38]
Chr3:7442823..9037461 [GRCh37]
Chr3:7417823..9012461 [NCBI36]
Chr3:3p26.1-25.3		 uncertain significance
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter) single nucleotide variant Long QT syndrome [RCV001221300]|not provided [RCV000171636] Chr3:8745705 [GRCh38]
Chr3:8787391 [GRCh37]
Chr3:3p25.3		 likely pathogenic|uncertain significance
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 copy number gain See cases [RCV000135641] Chr3:8038727..11240931 [GRCh38]
Chr3:8080414..11282617 [GRCh37]
Chr3:8055414..11257617 [NCBI36]
Chr3:3p26.1-25.3		 likely pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1 copy number loss See cases [RCV000137109] Chr3:52266..9450310 [GRCh38]
Chr3:93949..9491994 [GRCh37]
Chr3:68949..9466994 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic|likely benign
GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1 copy number loss See cases [RCV000139253] Chr3:32241..9469506 [GRCh38]
Chr3:73914..9511190 [GRCh37]
Chr3:48914..9486190 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1 copy number loss See cases [RCV000140519] Chr3:8320124..9395968 [GRCh38]
Chr3:8361812..9437652 [GRCh37]
Chr3:8336812..9412652 [NCBI36]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1 copy number loss See cases [RCV000140239] Chr3:32241..9574994 [GRCh38]
Chr3:73914..9616678 [GRCh37]
Chr3:48914..9591678 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1 copy number loss See cases [RCV000140848] Chr3:32241..9066287 [GRCh38]
Chr3:73914..9107971 [GRCh37]
Chr3:48914..9082971 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1 copy number loss See cases [RCV000142284] Chr3:20213..9362037 [GRCh38]
Chr3:61891..9403721 [GRCh37]
Chr3:36891..9378721 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 copy number loss See cases [RCV000143706] Chr3:688897..11051142 [GRCh38]
Chr3:730581..11092828 [GRCh37]
Chr3:705581..11067828 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
NM_033337.3(CAV3):c.39C>T (p.Ile13=) single nucleotide variant Cardiovascular phenotype [RCV002354375]|Long QT syndrome [RCV001087560]|not provided [RCV000827127]|not specified [RCV000155783] Chr3:8733915 [GRCh38]
Chr3:8775601 [GRCh37]
Chr3:3p25.3		 benign|likely benign
NM_033337.3(CAV3):c.168C>T (p.Gly56=) single nucleotide variant Cardiovascular phenotype [RCV002399522]|Long QT syndrome [RCV000549500]|not provided [RCV001701528]|not specified [RCV000150235] Chr3:8745579 [GRCh38]
Chr3:8787265 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) single nucleotide variant Cardiomyopathy [RCV000770193]|Cardiovascular phenotype [RCV000619202]|Long QT syndrome [RCV001084128]|not provided [RCV000727218]|not specified [RCV000150234] Chr3:8733916 [GRCh38]
Chr3:8775602 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.312G>A (p.Val104=) single nucleotide variant Long QT syndrome [RCV001403467]|not provided [RCV000175964] Chr3:8745723 [GRCh38]
Chr3:8787409 [GRCh37]
Chr3:3p25.3		 likely benign|uncertain significance
NM_033337.3(CAV3):c.402G>A (p.Ala134=) single nucleotide variant Cardiomyopathy [RCV000769180]|Cardiovascular phenotype [RCV003162658]|Long QT syndrome [RCV001037438]|not specified [RCV000157832] Chr3:8745813 [GRCh38]
Chr3:8787499 [GRCh37]
Chr3:3p25.3		 benign|likely benign|uncertain significance
NM_033337.3(CAV3):c.-33G>T single nucleotide variant Caveolinopathy [RCV000272881]|Congenital long QT syndrome [RCV000327913]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000288053]|not specified [RCV000157833] Chr3:8733844 [GRCh38]
Chr3:8775530 [GRCh37]
Chr3:3p25.3		 benign|uncertain significance
NM_033337.3(CAV3):c.160T>G (p.Phe54Val) single nucleotide variant Long QT syndrome [RCV002785678] Chr3:8745571 [GRCh38]
Chr3:8787257 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.251T>C (p.Leu84Pro) single nucleotide variant not provided [RCV000157836] Chr3:8745662 [GRCh38]
Chr3:8787348 [GRCh37]
Chr3:3p25.3		 likely pathogenic
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) single nucleotide variant Cardiovascular phenotype [RCV000617352]|Long QT syndrome [RCV000687833]|not provided [RCV000157838]|not specified [RCV003155093] Chr3:8745688 [GRCh38]
Chr3:8787374 [GRCh37]
Chr3:3p25.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.287C>G (p.Ser96Cys) single nucleotide variant not provided [RCV000157839] Chr3:8745698 [GRCh38]
Chr3:8787384 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.433G>A (p.Val145Met) single nucleotide variant Cardiovascular phenotype [RCV002326896]|Elevated circulating creatine kinase concentration [RCV002484965]|Long QT syndrome [RCV000822199]|not provided [RCV000729515]|not specified [RCV000157840] Chr3:8745844 [GRCh38]
Chr3:8787530 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) single nucleotide variant Cardiomyopathy [RCV001171083]|Caveolinopathy [RCV001144022]|Long QT syndrome [RCV001850194]|not provided [RCV000157841]|not specified [RCV000223776] Chr3:8745853 [GRCh38]
Chr3:8787539 [GRCh37]
Chr3:3p25.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.449A>T (p.Glu150Val) single nucleotide variant Long QT syndrome [RCV002516373]|not provided [RCV000157843] Chr3:8745860 [GRCh38]
Chr3:8787546 [GRCh37]
Chr3:3p25.3		 likely pathogenic|uncertain significance
NM_033337.3(CAV3):c.28G>A (p.Glu10Lys) single nucleotide variant Cardiovascular phenotype [RCV002433693]|Long QT syndrome [RCV000631607]|not specified [RCV000157844] Chr3:8733904 [GRCh38]
Chr3:8775590 [GRCh37]
Chr3:3p25.3		 likely benign|uncertain significance
NM_033337.3(CAV3):c.53A>G (p.His18Arg) single nucleotide variant Long QT syndrome [RCV001850195]|not provided [RCV000157845] Chr3:8733929 [GRCh38]
Chr3:8775615 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.88A>T (p.Lys30Ter) single nucleotide variant Cardiovascular phenotype [RCV002372029]|not provided [RCV000766694]|not specified [RCV000157847] Chr3:8733964 [GRCh38]
Chr3:8775650 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*276C>T single nucleotide variant Caveolinopathy [RCV000301555]|Congenital long QT syndrome [RCV000265235]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000359937]|not provided [RCV001712087] Chr3:8746143 [GRCh38]
Chr3:8787829 [GRCh37]
Chr3:3p25.3		 benign|likely benign
NM_033337.3(CAV3):c.*805C>A single nucleotide variant Caveolinopathy [RCV000260095]|Congenital long QT syndrome [RCV000265868]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000317046]|not provided [RCV002222491] Chr3:8746672 [GRCh38]
Chr3:8788358 [GRCh37]
Chr3:3p25.3		 benign|likely benign|uncertain significance
NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) single nucleotide variant Long QT syndrome [RCV000190168] Chr3:8733913 [GRCh38]
Chr3:8775599 [GRCh37]
Chr3:3p25.3		 likely pathogenic
NM_033337.3(CAV3):c.380C>A (p.Thr127Asn) single nucleotide variant Long QT syndrome [RCV001853367]|not specified [RCV000231210] Chr3:8745791 [GRCh38]
Chr3:8787477 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.234G>A (p.Thr78=) single nucleotide variant Cardiovascular phenotype [RCV000253071]|Long QT syndrome [RCV001081271]|not provided [RCV000726534]|not specified [RCV000273454] Chr3:8745645 [GRCh38]
Chr3:8787331 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.54C>T (p.His18=) single nucleotide variant Long QT syndrome [RCV001419251]|not specified [RCV000426979] Chr3:8733930 [GRCh38]
Chr3:8775616 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.15G>C (p.Glu5Asp) single nucleotide variant not provided [RCV000757057] Chr3:8733891 [GRCh38]
Chr3:8775577 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.110T>C (p.Val37Ala) single nucleotide variant Cardiovascular phenotype [RCV000248487] Chr3:8733986 [GRCh38]
Chr3:8775672 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.259C>T (p.Leu87Phe) single nucleotide variant Caveolinopathy [RCV000373246]|Congenital long QT syndrome [RCV000352365]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000278635] Chr3:8745670 [GRCh38]
Chr3:8787356 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*722G>A single nucleotide variant Caveolinopathy [RCV000401136]|Congenital long QT syndrome [RCV000279895]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000338268] Chr3:8746589 [GRCh38]
Chr3:8788275 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*763G>A single nucleotide variant Caveolinopathy [RCV000377300]|Congenital long QT syndrome [RCV000319152]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000295594] Chr3:8746630 [GRCh38]
Chr3:8788316 [GRCh37]
Chr3:3p25.3		 benign|uncertain significance
NM_033337.3(CAV3):c.115-45C>T single nucleotide variant not provided [RCV001711737]|not specified [RCV000248972] Chr3:8745481 [GRCh38]
Chr3:8787167 [GRCh37]
Chr3:3p25.3		 benign|likely benign
NM_033337.3(CAV3):c.*852G>A single nucleotide variant Caveolinopathy [RCV000315025]|Congenital long QT syndrome [RCV000275212]|Elevated circulating creatine kinase concentration [RCV002487526]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000367461] Chr3:8746719 [GRCh38]
Chr3:8788405 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*592G>A single nucleotide variant Caveolinopathy [RCV000274592]|Congenital long QT syndrome [RCV000271070]|Elevated circulating creatine kinase concentration [RCV002502331]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000384165] Chr3:8746459 [GRCh38]
Chr3:8788145 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.303G>C (p.Trp101Cys) single nucleotide variant not provided [RCV000256116] Chr3:8745714 [GRCh38]
Chr3:8787400 [GRCh37]
Chr3:3p25.3		 likely pathogenic
NM_033337.3(CAV3):c.337_345dup (p.Glu113_Gln115dup) duplication Long QT syndrome [RCV000549832] Chr3:8745747..8745748 [GRCh38]
Chr3:8787433..8787434 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*741G>A single nucleotide variant Caveolinopathy [RCV000320326]|Congenital long QT syndrome [RCV000267669]|Elevated circulating creatine kinase concentration [RCV002487525]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000326289] Chr3:8746608 [GRCh38]
Chr3:8788294 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*277G>A single nucleotide variant Caveolinopathy [RCV000332801]|Congenital long QT syndrome [RCV000372537]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000278021] Chr3:8746144 [GRCh38]
Chr3:8787830 [GRCh37]
Chr3:3p25.3		 benign|uncertain significance
NM_033337.3(CAV3):c.*834A>T single nucleotide variant Caveolinopathy [RCV000399735]|Congenital long QT syndrome [RCV000301814]|Elevated circulating creatine kinase concentration [RCV002488758]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000353360] Chr3:8746701 [GRCh38]
Chr3:8788387 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*788C>A single nucleotide variant Caveolinopathy [RCV000307329]|Congenital long QT syndrome [RCV000363903]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000358181] Chr3:8746655 [GRCh38]
Chr3:8788341 [GRCh37]
Chr3:3p25.3		 benign|uncertain significance
NM_033337.3(CAV3):c.376C>T (p.Arg126Cys) single nucleotide variant Cardiovascular phenotype [RCV002347984]|Long QT syndrome [RCV000525841]|not provided [RCV000270566] Chr3:8745787 [GRCh38]
Chr3:8787473 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) single nucleotide variant Cardiomyopathy [RCV000769174]|Cardiovascular phenotype [RCV002446508]|Long QT syndrome 1 [RCV000987089]|Long QT syndrome [RCV000457990]|See cases [RCV002252075]|not provided [RCV000726760] Chr3:8745655 [GRCh38]
Chr3:8787341 [GRCh37]
Chr3:3p25.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.400G>A (p.Ala134Thr) single nucleotide variant Elevated circulating creatine kinase concentration [RCV000764517]|Long QT syndrome [RCV001855199]|not provided [RCV000348197] Chr3:8745811 [GRCh38]
Chr3:8787497 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*813del deletion Caveolinopathy [RCV000329785]|Congenital long QT syndrome [RCV000277007]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000289785]|not provided [RCV001653671] Chr3:8746678 [GRCh38]
Chr3:8788364 [GRCh37]
Chr3:3p25.3		 benign|likely benign
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) deletion Cardiovascular phenotype [RCV002436126]|Elevated circulating creatine kinase concentration [RCV002248512]|Long QT syndrome [RCV000465696]|not provided [RCV000381159] Chr3:8733883..8733890 [GRCh38]
Chr3:8775569..8775576 [GRCh37]
Chr3:3p25.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.346T>C (p.Cys116Arg) single nucleotide variant not provided [RCV000362812] Chr3:8745757 [GRCh38]
Chr3:8787443 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.399C>T (p.Phe133=) single nucleotide variant Cardiovascular phenotype [RCV002374453]|Long QT syndrome [RCV001086486]|not provided [RCV000299841] Chr3:8745810 [GRCh38]
Chr3:8787496 [GRCh37]
Chr3:3p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.401C>T (p.Ala134Val) single nucleotide variant Cardiomyopathy [RCV001798766]|Cardiovascular phenotype [RCV002356363]|Elevated circulating creatine kinase concentration [RCV002494807]|Long QT syndrome [RCV001062068]|not provided [RCV000332606] Chr3:8745812 [GRCh38]
Chr3:8787498 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.92A>T (p.Asn31Ile) single nucleotide variant not provided [RCV000370059] Chr3:8733968 [GRCh38]
Chr3:8775654 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*853T>C single nucleotide variant Caveolinopathy [RCV000384894]|Congenital long QT syndrome [RCV000378597]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000268979] Chr3:8746720 [GRCh38]
Chr3:8788406 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*725T>C single nucleotide variant Caveolinopathy [RCV000310544]|Congenital long QT syndrome [RCV000368691]|Hypertrophic cardiomyopathy [RCV000399123]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000313896]|Long QT syndrome [RCV000365256] Chr3:8746592 [GRCh38]
Chr3:8788278 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*467T>C single nucleotide variant Caveolinopathy [RCV000398812]|Congenital long QT syndrome [RCV000340817]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000400679] Chr3:8746334 [GRCh38]
Chr3:8788020 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*433C>T single nucleotide variant Caveolinopathy [RCV000293226]|Congenital long QT syndrome [RCV000289305]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000387331] Chr3:8746300 [GRCh38]
Chr3:8787986 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.183C>G (p.Ser61Arg) single nucleotide variant not provided [RCV000732028] Chr3:8745594 [GRCh38]
Chr3:8787280 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys) single nucleotide variant Long QT syndrome [RCV000539792] Chr3:8733975 [GRCh38]
Chr3:8775661 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance
NM_033337.3(CAV3):c.384C>T (p.Phe128=) single nucleotide variant Cardiomyopathy [RCV000769178]|Cardiovascular phenotype [RCV002358448]|Long QT syndrome [RCV001078913]|not provided [RCV000726601]|not specified [RCV000593370] Chr3:8745795 [GRCh38]
Chr3:8787481 [GRCh37]
Chr3:3p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
NM_033337.3(CAV3):c.-47C>T single nucleotide variant not specified [RCV000427370] Chr3:8733830 [GRCh38]
Chr3:8775516 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*85C>A single nucleotide variant Caveolinopathy [RCV001145928]|not specified [RCV000427708] Chr3:8745952 [GRCh38]
Chr3:8787638 [GRCh37]
Chr3:3p25.3		 likely benign|uncertain significance
NM_033337.3(CAV3):c.114+20C>T single nucleotide variant not specified [RCV000438889] Chr3:8734010 [GRCh38]
Chr3:8775696 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.-48C>T single nucleotide variant not specified [RCV000438900] Chr3:8733829 [GRCh38]
Chr3:8775515 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.-33G>A single nucleotide variant not specified [RCV000422757] Chr3:8733844 [GRCh38]
Chr3:8775530 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.*6G>A single nucleotide variant not specified [RCV000440495] Chr3:8745873 [GRCh38]
Chr3:8787559 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.*123A>G single nucleotide variant not specified [RCV000440838] Chr3:8745990 [GRCh38]
Chr3:8787676 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.114+8C>G single nucleotide variant Long QT syndrome [RCV001491867]|not specified [RCV000444515] Chr3:8733998 [GRCh38]
Chr3:8775684 [GRCh37]
Chr3:3p25.3		 likely benign
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)x1 copy number loss See cases [RCV000448839] Chr3:6842555..10153209 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
NM_033337.3(CAV3):c.221G>A (p.Arg74His) single nucleotide variant Cardiomyopathy [RCV000769172]|Elevated circulating creatine kinase concentration [RCV002496772]|Long QT syndrome [RCV000463594]|not provided [RCV000727940] Chr3:8745632 [GRCh38]
Chr3:8787318 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.6_7del (p.Met2fs) deletion Long QT syndrome [RCV000464773]|not specified [RCV000607856] Chr3:8733882..8733883 [GRCh38]
Chr3:8775568..8775569 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg) single nucleotide variant Cardiovascular phenotype [RCV002393131]|Elevated circulating creatine kinase concentration [RCV002481436]|Long QT syndrome [RCV000465194] Chr3:8745554 [GRCh38]
Chr3:8787240 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.192C>A (p.Thr64=) single nucleotide variant Long QT syndrome [RCV001491813] Chr3:8745603 [GRCh38]
Chr3:8787289 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.172T>G (p.Trp58Gly) single nucleotide variant Long QT syndrome [RCV000469969] Chr3:8745583 [GRCh38]
Chr3:8787269 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.451G>A (p.Val151Ile) single nucleotide variant Cardiovascular phenotype [RCV002329057]|Long QT syndrome [RCV000470414]|not provided [RCV001545712] Chr3:8745862 [GRCh38]
Chr3:8787548 [GRCh37]
Chr3:3p25.3		 likely benign|uncertain significance
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) single nucleotide variant Cardiovascular phenotype [RCV002411476]|Elevated circulating creatine kinase concentration [RCV002496771]|Long QT syndrome [RCV000472187]|not provided [RCV000598341]|not specified [RCV001255494] Chr3:8745536 [GRCh38]
Chr3:8787222 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.117G>C (p.Val39=) single nucleotide variant Long QT syndrome [RCV001087907]|not provided [RCV000728682] Chr3:8745528 [GRCh38]
Chr3:8787214 [GRCh37]
Chr3:3p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.431A>G (p.Lys144Arg) single nucleotide variant Long QT syndrome [RCV000458413]|not provided [RCV000522538] Chr3:8745842 [GRCh38]
Chr3:8787528 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1 copy number loss See cases [RCV000511872] Chr3:61891..8777555 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:7349315-9047066)x3 copy number gain See cases [RCV000511091] Chr3:7349315..9047066 [GRCh37]
Chr3:3p26.1-25.3		 uncertain significance
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2		 pathogenic
NM_033337.3(CAV3):c.297C>T (p.His99=) single nucleotide variant Cardiovascular phenotype [RCV000618503]|Long QT syndrome [RCV002531741] Chr3:8745708 [GRCh38]
Chr3:8787394 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.305C>T (p.Ala102Val) single nucleotide variant Cardiovascular phenotype [RCV002448578]|Long QT syndrome [RCV001225506]|not provided [RCV000522267]|not specified [RCV001328432] Chr3:8745716 [GRCh38]
Chr3:8787402 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.32C>T (p.Ala11Val) single nucleotide variant Cardiovascular phenotype [RCV000621948]|Long QT syndrome [RCV000631558]|not provided [RCV001764730] Chr3:8733908 [GRCh38]
Chr3:8775594 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.165C>T (p.Asp55=) single nucleotide variant Long QT syndrome [RCV001443490]|not provided [RCV000537001]|not specified [RCV001700201] Chr3:8745576 [GRCh38]
Chr3:8787262 [GRCh37]
Chr3:3p25.3		 benign|likely benign
NM_033337.3(CAV3):c.254C>A (p.Ala85Asp) single nucleotide variant Long QT syndrome [RCV000631668] Chr3:8745665 [GRCh38]
Chr3:8787351 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.254C>T (p.Ala85Val) single nucleotide variant Elevated circulating creatine kinase concentration [RCV002497065]|Long QT syndrome [RCV000537070] Chr3:8745665 [GRCh38]
Chr3:8787351 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_033337.3(CAV3):c.36G>T (p.Gln12His) single nucleotide variant Long QT syndrome [RCV000631574] Chr3:8733912 [GRCh38]
Chr3:8775598 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.402G>C (p.Ala134=) single nucleotide variant Cardiomyopathy [RCV000769181]|Cardiovascular phenotype [RCV000617947]|Long QT syndrome [RCV001078887]|not provided [RCV000734249] Chr3:8745813 [GRCh38]
Chr3:8787499 [GRCh37]
Chr3:3p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.134T>A (p.Ile45Asn) single nucleotide variant Elevated circulating creatine kinase concentration [RCV002465735]|not provided [RCV000594467] Chr3:8745545 [GRCh38]
Chr3:8787231 [GRCh37]
Chr3:3p25.3		 likely pathogenic|uncertain significance
NM_033337.3(CAV3):c.337G>A (p.Glu113Lys) single nucleotide variant Cardiomyopathy [RCV000769177]|Cardiovascular phenotype [RCV000618424]|Long QT syndrome [RCV001054529] Chr3:8745748 [GRCh38]
Chr3:8787434 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_033337.3(CAV3):c.115-9C>T single nucleotide variant not specified [RCV000601522] Chr3:8745517 [GRCh38]
Chr3:8787203 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.129_140del (p.Asp43_Ala46del) deletion not provided [RCV000597801] Chr3:8745537..8745548 [GRCh38]
Chr3:8787223..8787234 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.-29C>T single nucleotide variant not specified [RCV000613189] Chr3:8733848 [GRCh38]
Chr3:8775534 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.366dup (p.Leu123fs) duplication not provided [RCV000595250] Chr3:8745776..8745777 [GRCh38]
Chr3:8787462..8787463 [GRCh37]
Chr3:3p25.3		 likely pathogenic
NM_033337.3(CAV3):c.51C>T (p.Ile17=) single nucleotide variant not specified [RCV000613896] Chr3:8733927 [GRCh38]
Chr3:8775613 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.129C>T (p.Asp43=) single nucleotide variant Cardiovascular phenotype [RCV002384311]|Long QT syndrome [RCV000631875]|not specified [RCV000614104] Chr3:8745540 [GRCh38]
Chr3:8787226 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.85C>T (p.Pro29Ser) single nucleotide variant Long QT syndrome [RCV000631571] Chr3:8733961 [GRCh38]
Chr3:8775647 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.114+5G>C single nucleotide variant Long QT syndrome [RCV000631648] Chr3:8733995 [GRCh38]
Chr3:8775681 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p25.3(chr3:8716167-9005190)x1 copy number loss not provided [RCV000682239] Chr3:8716167..9005190 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1 copy number loss not provided [RCV000682180] Chr3:61891..10104842 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
NM_033337.3(CAV3):c.128A>T (p.Asp43Val) single nucleotide variant Long QT syndrome [RCV000702459] Chr3:8745539 [GRCh38]
Chr3:8787225 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.154_155dup (p.Ser53fs) duplication Abnormality of the musculature [RCV001814536] Chr3:8745564..8745565 [GRCh38]
Chr3:8787250..8787251 [GRCh37]
Chr3:3p25.3		 likely pathogenic
NM_033337.3(CAV3):c.99_102delinsT (p.Glu34del) indel Long QT syndrome [RCV000700082] Chr3:8733975..8733978 [GRCh38]
Chr3:8775661..8775664 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.391C>A (p.Pro131Thr) single nucleotide variant Cardiomyopathy [RCV000769179] Chr3:8745802 [GRCh38]
Chr3:8787488 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_033337.3(CAV3):c.135C>T (p.Ile45=) single nucleotide variant Cardiovascular phenotype [RCV002381970]|Long QT syndrome [RCV001480828] Chr3:8745546 [GRCh38]
Chr3:8787232 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg) single nucleotide variant Cardiovascular phenotype [RCV002370064]|Long QT syndrome 9 [RCV000790453]|Long QT syndrome [RCV001315851]|not provided [RCV001555134] Chr3:8733965 [GRCh38]
Chr3:8775651 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.454del (p.Ter152LysextTer?) deletion Long QT syndrome [RCV001066014]|not provided [RCV000991750] Chr3:8745865 [GRCh38]
Chr3:8787551 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*38G>C single nucleotide variant Caveolinopathy [RCV001145927]|not provided [RCV001712858] Chr3:8745905 [GRCh38]
Chr3:8787591 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.318C>T (p.Cys106=) single nucleotide variant Cardiovascular phenotype [RCV002320128]|Long QT syndrome [RCV000936721] Chr3:8745729 [GRCh38]
Chr3:8787415 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.60G>A (p.Lys20=) single nucleotide variant Cardiovascular phenotype [RCV002354883]|Elevated circulating creatine kinase concentration [RCV002503131]|Long QT syndrome [RCV000981588] Chr3:8733936 [GRCh38]
Chr3:8775622 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.130G>A (p.Val44Met) single nucleotide variant Long QT syndrome [RCV001054902] Chr3:8745541 [GRCh38]
Chr3:8787227 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.131T>C (p.Val44Ala) single nucleotide variant Long QT syndrome [RCV001071606] Chr3:8745542 [GRCh38]
Chr3:8787228 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter) single nucleotide variant Long QT syndrome [RCV001050053] Chr3:8733955 [GRCh38]
Chr3:8775641 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance
NM_033337.3(CAV3):c.446AGG[1] (p.Glu150del) microsatellite Long QT syndrome 9 [RCV001089530] Chr3:8745857..8745859 [GRCh38]
Chr3:8787543..8787545 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.165del (p.Asp55fs) deletion Cardiovascular phenotype [RCV003166095]|Long QT syndrome [RCV000792918] Chr3:8745576 [GRCh38]
Chr3:8787262 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance
NM_033337.3(CAV3):c.413A>G (p.Gln138Arg) single nucleotide variant Cardiomyopathy [RCV000769182] Chr3:8745824 [GRCh38]
Chr3:8787510 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.115-1G>A single nucleotide variant Cardiomyopathy [RCV000770195] Chr3:8745525 [GRCh38]
Chr3:8787211 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.201C>T (p.Val67=) single nucleotide variant Long QT syndrome [RCV001474700] Chr3:8745612 [GRCh38]
Chr3:8787298 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.115-6del deletion not provided [RCV000978683] Chr3:8745517 [GRCh38]
Chr3:8787203 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.438G>A (p.Val146=) single nucleotide variant Cardiovascular phenotype [RCV002332923]|Long QT syndrome [RCV001458712] Chr3:8745849 [GRCh38]
Chr3:8787535 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.2(CAV3):c.-340C>A single nucleotide variant not provided [RCV000827588] Chr3:8733537 [GRCh38]
Chr3:8775223 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.(?_8733867)_(8745877_?)del deletion Long QT syndrome [RCV000820602] Chr3:8733867..8745877 [GRCh38]
Chr3:8775553..8787563 [GRCh37]
Chr3:3p25.3		 pathogenic
NC_000003.11:g.(?_8775553)_(8787563_?)dup duplication Long QT syndrome [RCV000803278] Chr3:8733867..8745877 [GRCh38]
Chr3:8775553..8787563 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) single nucleotide variant Joubert syndrome 9 [RCV000984999] Chr3:8745713 [GRCh38]
Chr3:8787399 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.2(CAV3):c.-184G>T single nucleotide variant not provided [RCV000831108] Chr3:8733693 [GRCh38]
Chr3:8775379 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.114+171C>G single nucleotide variant not provided [RCV000831430] Chr3:8734161 [GRCh38]
Chr3:8775847 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.2:c.115-89G>T single nucleotide variant not provided [RCV000831431] Chr3:8787123 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.266G>T (p.Gly89Val) single nucleotide variant Long QT syndrome [RCV000805965] Chr3:8745677 [GRCh38]
Chr3:8787363 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.115-315G>T single nucleotide variant not provided [RCV000827783] Chr3:8745211 [GRCh38]
Chr3:8786897 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.2(CAV3):c.-348G>A single nucleotide variant not provided [RCV000828918] Chr3:8733529 [GRCh38]
Chr3:8775215 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.*20G>A single nucleotide variant Caveolinopathy [RCV001145926]|not provided [RCV001644921]|not specified [RCV001701291] Chr3:8745887 [GRCh38]
Chr3:8787573 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*193T>C single nucleotide variant Caveolinopathy [RCV001145931] Chr3:8746060 [GRCh38]
Chr3:8787746 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.2(CAV3):c.-343G>A single nucleotide variant not provided [RCV000828706] Chr3:8733534 [GRCh38]
Chr3:8775220 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.56G>A (p.Cys19Tyr) single nucleotide variant Long QT syndrome [RCV000806621] Chr3:8733932 [GRCh38]
Chr3:8775618 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.230C>T (p.Ser77Phe) single nucleotide variant Long QT syndrome [RCV000796363] Chr3:8745641 [GRCh38]
Chr3:8787327 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*312G>A single nucleotide variant Caveolinopathy [RCV001148709] Chr3:8746179 [GRCh38]
Chr3:8787865 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*340G>A single nucleotide variant Caveolinopathy [RCV001148710]|not provided [RCV001644923] Chr3:8746207 [GRCh38]
Chr3:8787893 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*441T>C single nucleotide variant Caveolinopathy [RCV001148713]|Elevated circulating creatine kinase concentration [RCV002480545] Chr3:8746308 [GRCh38]
Chr3:8787994 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.2(CAV3):c.-268C>T single nucleotide variant not provided [RCV000839899] Chr3:8733609 [GRCh38]
Chr3:8775295 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.2(CAV3):c.-410C>T single nucleotide variant not provided [RCV000843458] Chr3:8733467 [GRCh38]
Chr3:8775153 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.115-315G>C single nucleotide variant not provided [RCV000843484] Chr3:8745211 [GRCh38]
Chr3:8786897 [GRCh37]
Chr3:3p25.3		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787442] Chr3:36016..9307855 [GRCh37]
Chr3:3p26.3-25.3		 likely pathogenic
NM_033337.3(CAV3):c.*440G>A single nucleotide variant Caveolinopathy [RCV001148712] Chr3:8746307 [GRCh38]
Chr3:8787993 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*598G>C single nucleotide variant Caveolinopathy [RCV001150269] Chr3:8746465 [GRCh38]
Chr3:8788151 [GRCh37]
Chr3:3p25.3		 benign
GRCh37/hg19 3p26.1-25.3(chr3:7172720-9545741)x3 copy number gain not provided [RCV001005411] Chr3:7172720..9545741 [GRCh37]
Chr3:3p26.1-25.3		 uncertain significance
NM_033337.3(CAV3):c.266G>A (p.Gly89Asp) single nucleotide variant Long QT syndrome [RCV001858740]|not provided [RCV000991749] Chr3:8745677 [GRCh38]
Chr3:8787363 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) single nucleotide variant Cardiovascular phenotype [RCV003163726]|Long QT syndrome [RCV001222783]|not provided [RCV001509209] Chr3:8733933 [GRCh38]
Chr3:8775619 [GRCh37]
Chr3:3p25.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033337.3(CAV3):c.281G>C (p.Cys94Ser) single nucleotide variant Long QT syndrome [RCV001225062] Chr3:8745692 [GRCh38]
Chr3:8787378 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.159C>G (p.Ser53Arg) single nucleotide variant Long QT syndrome [RCV001241450] Chr3:8745570 [GRCh38]
Chr3:8787256 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.-2C>A single nucleotide variant not provided [RCV000997974] Chr3:8733875 [GRCh38]
Chr3:8775561 [GRCh37]
Chr3:3p25.3		 likely benign|uncertain significance
NM_033337.3(CAV3):c.380C>T (p.Thr127Ile) single nucleotide variant Long QT syndrome [RCV001212332]|not provided [RCV003145390] Chr3:8745791 [GRCh38]
Chr3:8787477 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*658T>A single nucleotide variant Caveolinopathy [RCV001150270]|Elevated circulating creatine kinase concentration [RCV002491438] Chr3:8746525 [GRCh38]
Chr3:8788211 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1 copy number loss not provided [RCV001007530] Chr3:61891..10287825 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
NM_033337.3(CAV3):c.5T>C (p.Met2Thr) single nucleotide variant Long QT syndrome [RCV001069061] Chr3:8733881 [GRCh38]
Chr3:8775567 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*341C>T single nucleotide variant not provided [RCV001635662] Chr3:8746208 [GRCh38]
Chr3:8787894 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*208C>T single nucleotide variant not provided [RCV001715738] Chr3:8746075 [GRCh38]
Chr3:8787761 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.-31A>G single nucleotide variant not provided [RCV001714455] Chr3:8733846 [GRCh38]
Chr3:8775532 [GRCh37]
Chr3:3p25.3		 benign
Single allele microsatellite not provided [RCV001614149] Chr3:8746797..8746798 [GRCh38]
Chr3:8788483..8788484 [GRCh37]
Chr3:3p25.3		 benign
Single allele single nucleotide variant not provided [RCV001656467] Chr3:8733739 [GRCh38]
Chr3:8775425 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.177G>A (p.Lys59=) single nucleotide variant Cardiovascular phenotype [RCV002405236]|Long QT syndrome [RCV002072051]|not provided [RCV001552372] Chr3:8745588 [GRCh38]
Chr3:8787274 [GRCh37]
Chr3:3p25.3		 likely benign
Single allele microsatellite not provided [RCV001686458] Chr3:8746797..8746798 [GRCh38]
Chr3:8788483..8788484 [GRCh37]
Chr3:3p25.3		 benign
Single allele microsatellite not provided [RCV001595755] Chr3:8746804..8746805 [GRCh38]
Chr3:8788490..8788491 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.372C>T (p.Cys124=) single nucleotide variant Long QT syndrome [RCV002544565] Chr3:8745783 [GRCh38]
Chr3:8787469 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) single nucleotide variant Elevated circulating creatine kinase concentration [RCV001249608] Chr3:8745710 [GRCh38]
Chr3:8787396 [GRCh37]
Chr3:3p25.3		 likely pathogenic
NM_033337.3(CAV3):c.133A>G (p.Ile45Val) single nucleotide variant Long QT syndrome [RCV001049928] Chr3:8745544 [GRCh38]
Chr3:8787230 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.115-6C>T single nucleotide variant Long QT syndrome [RCV001463137] Chr3:8745520 [GRCh38]
Chr3:8787206 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.115-273T>C single nucleotide variant not provided [RCV001574857] Chr3:8745253 [GRCh38]
Chr3:8786939 [GRCh37]
Chr3:3p25.3		 likely benign
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3 copy number gain not provided [RCV002468435] Chr3:60931..10687964 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:8394537-9014878)x1 copy number loss not provided [RCV002472893] Chr3:8394537..9014878 [GRCh37]
Chr3:3p26.1-25.3		 uncertain significance
NM_033337.3(CAV3):c.114+155C>A single nucleotide variant not provided [RCV001635801] Chr3:8734145 [GRCh38]
Chr3:8775831 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*116C>G single nucleotide variant not provided [RCV001715737] Chr3:8745983 [GRCh38]
Chr3:8787669 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.115-151A>G single nucleotide variant not provided [RCV001708338] Chr3:8745375 [GRCh38]
Chr3:8787061 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.114+48G>A single nucleotide variant not provided [RCV001616932] Chr3:8734038 [GRCh38]
Chr3:8775724 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*291T>C single nucleotide variant not provided [RCV001616933] Chr3:8746158 [GRCh38]
Chr3:8787844 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.11:g.(?_8775553)_(9730776_?)dup duplication Long QT syndrome [RCV001033330] Chr3:8775553..9730776 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p25.3(chr3:8736661-8889809)x1 copy number loss not provided [RCV001005412] Chr3:8736661..8889809 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.-46G>A single nucleotide variant not provided [RCV001714454] Chr3:8733831 [GRCh38]
Chr3:8775517 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.188C>T (p.Thr63Ile) single nucleotide variant Long QT syndrome [RCV001237230] Chr3:8745599 [GRCh38]
Chr3:8787285 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*569G>A single nucleotide variant Caveolinopathy [RCV001150268] Chr3:8746436 [GRCh38]
Chr3:8788122 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*86G>A single nucleotide variant Caveolinopathy [RCV001145929]|not provided [RCV001644922] Chr3:8745953 [GRCh38]
Chr3:8787639 [GRCh37]
Chr3:3p25.3		 benign|uncertain significance
NM_033337.3(CAV3):c.*134G>A single nucleotide variant Caveolinopathy [RCV001145930]|Elevated circulating creatine kinase concentration [RCV002491432] Chr3:8746001 [GRCh38]
Chr3:8787687 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.88A>C (p.Lys30Gln) single nucleotide variant Long QT syndrome [RCV001215546] Chr3:8733964 [GRCh38]
Chr3:8775650 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.424A>G (p.Ser142Gly) single nucleotide variant Long QT syndrome [RCV001035400] Chr3:8745835 [GRCh38]
Chr3:8787521 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*13C>A single nucleotide variant Caveolinopathy [RCV001145925] Chr3:8745880 [GRCh38]
Chr3:8787566 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr) single nucleotide variant Cardiovascular phenotype [RCV002365897]|Long QT syndrome [RCV001300267]|Rippling muscle disease 2 [RCV001197876] Chr3:8733941 [GRCh38]
Chr3:8775627 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.310G>A (p.Val104Met) single nucleotide variant Elevated circulating creatine kinase concentration [RCV002481899]|Long QT syndrome [RCV001042946]|not provided [RCV001310468] Chr3:8745721 [GRCh38]
Chr3:8787407 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.*435T>A single nucleotide variant Caveolinopathy [RCV001148711] Chr3:8746302 [GRCh38]
Chr3:8787988 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p25.3(chr3:8745819-9043663)x3 copy number gain not provided [RCV001259807] Chr3:8745819..9043663 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.227T>C (p.Leu76Ser) single nucleotide variant not specified [RCV001255516] Chr3:8745638 [GRCh38]
Chr3:8787324 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.1-25.3(chr3:7694117-9546173)x1 copy number loss See cases [RCV002285054] Chr3:7694117..9546173 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
NM_033337.3(CAV3):c.71T>C (p.Leu24Pro) single nucleotide variant Long QT syndrome [RCV001341588] Chr3:8733947 [GRCh38]
Chr3:8775633 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.315del (p.Cys106fs) deletion Familial hypertrophic cardiomyopathy 1 [RCV001333422] Chr3:8745726 [GRCh38]
Chr3:8787412 [GRCh37]
Chr3:3p25.3		 pathogenic
NM_033337.3(CAV3):c.165C>A (p.Asp55Glu) single nucleotide variant Caveolinopathy [RCV001796985]|Long QT syndrome [RCV001340756] Chr3:8745576 [GRCh38]
Chr3:8787262 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.199G>A (p.Val67Ile) single nucleotide variant Long QT syndrome [RCV001372540] Chr3:8745610 [GRCh38]
Chr3:8787296 [GRCh37]
Chr3:3p25.3		 uncertain significance
Single allele insertion not provided [RCV001787488] Chr3:8746797..8746798 [GRCh38]
Chr3:8788483..8788484 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.273G>A (p.Leu91=) single nucleotide variant Long QT syndrome [RCV001392573]|not provided [RCV001713140] Chr3:8745684 [GRCh38]
Chr3:8787370 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.231C>T (p.Ser77=) single nucleotide variant Long QT syndrome [RCV001415057] Chr3:8745642 [GRCh38]
Chr3:8787328 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg) single nucleotide variant Elevated circulating creatine kinase concentration [RCV002504511]|Long QT syndrome [RCV001326057] Chr3:8733911 [GRCh38]
Chr3:8775597 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.58A>G (p.Lys20Glu) single nucleotide variant Long QT syndrome [RCV001350841] Chr3:8733934 [GRCh38]
Chr3:8775620 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.165C>G (p.Asp55Glu) single nucleotide variant Long QT syndrome [RCV001306659] Chr3:8745576 [GRCh38]
Chr3:8787262 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.241G>A (p.Gly81Ser) single nucleotide variant not provided [RCV001289358] Chr3:8745652 [GRCh38]
Chr3:8787338 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.247C>T (p.Pro83Ser) single nucleotide variant Elevated circulating creatine kinase concentration [RCV002499640]|Long QT syndrome [RCV001325852] Chr3:8745658 [GRCh38]
Chr3:8787344 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.55T>C (p.Cys19Arg) single nucleotide variant Cardiovascular phenotype [RCV002350626]|Long QT syndrome [RCV001343155] Chr3:8733931 [GRCh38]
Chr3:8775617 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.194T>C (p.Phe65Ser) single nucleotide variant Long QT syndrome [RCV001308516]|not provided [RCV003145545] Chr3:8745605 [GRCh38]
Chr3:8787291 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.345G>C (p.Gln115His) single nucleotide variant Long QT syndrome [RCV001366492] Chr3:8745756 [GRCh38]
Chr3:8787442 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.84C>G (p.Asp28Glu) single nucleotide variant not provided [RCV001289359] Chr3:8733960 [GRCh38]
Chr3:8775646 [GRCh37]
Chr3:3p25.3		 likely pathogenic
NM_033337.3(CAV3):c.177G>C (p.Lys59Asn) single nucleotide variant Long QT syndrome [RCV001368688] Chr3:8745588 [GRCh38]
Chr3:8787274 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.9A>G (p.Ala3=) single nucleotide variant Cardiovascular phenotype [RCV002384624]|Long QT syndrome [RCV001421935] Chr3:8733885 [GRCh38]
Chr3:8775571 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.115-8C>T single nucleotide variant Long QT syndrome [RCV001413036] Chr3:8745518 [GRCh38]
Chr3:8787204 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.27C>G (p.Leu9=) single nucleotide variant Long QT syndrome [RCV001477939] Chr3:8733903 [GRCh38]
Chr3:8775589 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.429C>A (p.Ile143=) single nucleotide variant Cardiovascular phenotype [RCV002329505]|Long QT syndrome [RCV001445394] Chr3:8745840 [GRCh38]
Chr3:8787526 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.267C>T (p.Gly89=) single nucleotide variant Long QT syndrome [RCV001429813] Chr3:8745678 [GRCh38]
Chr3:8787364 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.17A>T (p.His6Leu) single nucleotide variant Long QT syndrome [RCV002568006]|not provided [RCV001509208] Chr3:8733893 [GRCh38]
Chr3:8775579 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.147G>A (p.Val49=) single nucleotide variant Cardiovascular phenotype [RCV002388528]|Long QT syndrome [RCV001495648] Chr3:8745558 [GRCh38]
Chr3:8787244 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.*36G>A single nucleotide variant not provided [RCV001654154] Chr3:8745903 [GRCh38]
Chr3:8787589 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.*80G>A single nucleotide variant not provided [RCV001715739] Chr3:8745947 [GRCh38]
Chr3:8787633 [GRCh37]
Chr3:3p25.3		 benign
Single allele insertion not provided [RCV001644330] Chr3:8746799..8746800 [GRCh38]
Chr3:8788485..8788486 [GRCh37]
Chr3:3p25.3		 benign
NM_033337.3(CAV3):c.243C>T (p.Gly81=) single nucleotide variant Cardiovascular phenotype [RCV002456632]|Long QT syndrome [RCV001399772] Chr3:8745654 [GRCh38]
Chr3:8787340 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.455A>G (p.Ter152=) single nucleotide variant Long QT syndrome [RCV001460027] Chr3:8745866 [GRCh38]
Chr3:8787552 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.22G>A (p.Asp8Asn) single nucleotide variant Long QT syndrome 9 [RCV001728080] Chr3:8733898 [GRCh38]
Chr3:8775584 [GRCh37]
Chr3:3p25.3		 uncertain significance
Single allele microsatellite not provided [RCV001779811] Chr3:8746799..8746800 [GRCh38]
Chr3:8788485..8788486 [GRCh37]
Chr3:3p25.3		 likely benign
Single allele insertion not provided [RCV001786258] Chr3:8746799..8746800 [GRCh38]
Chr3:8788485..8788486 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.102_104del (p.Glu34del) deletion not provided [RCV001768536] Chr3:8733976..8733978 [GRCh38]
Chr3:8775662..8775664 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.269T>C (p.Phe90Ser) single nucleotide variant not provided [RCV001770613] Chr3:8745680 [GRCh38]
Chr3:8787366 [GRCh37]
Chr3:3p25.3		 uncertain significance
Single allele deletion not provided [RCV001779834] Chr3:8746798..8746807 [GRCh38]
Chr3:8788484..8788493 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter) single nucleotide variant Long QT syndrome [RCV001806710] Chr3:8745624 [GRCh38]
Chr3:8787310 [GRCh37]
Chr3:3p25.3		 likely pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
NM_033337.3(CAV3):c.330C>A (p.Tyr110Ter) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV002051986]|Long QT syndrome [RCV001929607] Chr3:8745741 [GRCh38]
Chr3:8787427 [GRCh37]
Chr3:3p25.3		 likely pathogenic|uncertain significance
Single allele insertion not provided [RCV001843663] Chr3:8746797..8746798 [GRCh38]
Chr3:8788483..8788484 [GRCh37]
Chr3:3p25.3		 likely benign
GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094) copy number loss not specified [RCV002053298] Chr3:61891..9797094 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209) copy number loss not specified [RCV002053327] Chr3:6842555..10153209 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
NM_033337.3(CAV3):c.257T>A (p.Leu86Gln) single nucleotide variant Long QT syndrome [RCV001889892] Chr3:8745668 [GRCh38]
Chr3:8787354 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.184T>C (p.Tyr62His) single nucleotide variant Long QT syndrome [RCV001902688] Chr3:8745595 [GRCh38]
Chr3:8787281 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.115-2A>T single nucleotide variant Long QT syndrome [RCV001954266] Chr3:8745524 [GRCh38]
Chr3:8787210 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.46G>A (p.Asp16Asn) single nucleotide variant Cardiovascular phenotype [RCV003167313]|Long QT syndrome [RCV001936428] Chr3:8733922 [GRCh38]
Chr3:8775608 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.335T>C (p.Ile112Thr) single nucleotide variant Long QT syndrome [RCV001919612] Chr3:8745746 [GRCh38]
Chr3:8787432 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.86C>A (p.Pro29His) single nucleotide variant Long QT syndrome [RCV001956691] Chr3:8733962 [GRCh38]
Chr3:8775648 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.152C>T (p.Thr51Ile) single nucleotide variant Long QT syndrome [RCV001978237] Chr3:8745563 [GRCh38]
Chr3:8787249 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.7G>A (p.Ala3Thr) single nucleotide variant Long QT syndrome [RCV002009814] Chr3:8733883 [GRCh38]
Chr3:8775569 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.220C>G (p.Arg74Gly) single nucleotide variant Long QT syndrome [RCV002050455] Chr3:8745631 [GRCh38]
Chr3:8787317 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.11:g.(?_8775563)_(9986075_?)dup duplication Long QT syndrome [RCV001923348] Chr3:8775563..9986075 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.310G>C (p.Val104Leu) single nucleotide variant Elevated circulating creatine kinase concentration [RCV002489930]|Long QT syndrome [RCV002047064] Chr3:8745721 [GRCh38]
Chr3:8787407 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.11:g.(?_8775563)_(8787553_?)del deletion Long QT syndrome [RCV001953524] Chr3:8775563..8787553 [GRCh37]
Chr3:3p25.3		 pathogenic
NM_033337.3(CAV3):c.370T>C (p.Cys124Arg) single nucleotide variant Long QT syndrome [RCV001884761] Chr3:8745781 [GRCh38]
Chr3:8787467 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.11:g.(?_7782024)_(11078652_?)dup duplication Atrioventricular septal defect, susceptibility to, 2 [RCV001875165] Chr3:7782024..11078652 [GRCh37]
Chr3:3p26.1-25.3		 uncertain significance
NM_033337.3(CAV3):c.416T>C (p.Val139Ala) single nucleotide variant Long QT syndrome [RCV001923070] Chr3:8745827 [GRCh38]
Chr3:8787513 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.115-17C>T single nucleotide variant Long QT syndrome [RCV002145589] Chr3:8745509 [GRCh38]
Chr3:8787195 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.279C>T (p.Ala93=) single nucleotide variant Long QT syndrome [RCV002104301] Chr3:8745690 [GRCh38]
Chr3:8787376 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.183C>T (p.Ser61=) single nucleotide variant Long QT syndrome [RCV002207681] Chr3:8745594 [GRCh38]
Chr3:8787280 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.406C>T (p.Leu136=) single nucleotide variant Long QT syndrome [RCV002107877] Chr3:8745817 [GRCh38]
Chr3:8787503 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.423C>T (p.Ser141=) single nucleotide variant Long QT syndrome [RCV002071805] Chr3:8745834 [GRCh38]
Chr3:8787520 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.435G>T (p.Val145=) single nucleotide variant Long QT syndrome [RCV002192530] Chr3:8745846 [GRCh38]
Chr3:8787532 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.63G>A (p.Glu21=) single nucleotide variant Long QT syndrome [RCV002172201] Chr3:8733939 [GRCh38]
Chr3:8775625 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.339G>A (p.Glu113=) single nucleotide variant Long QT syndrome [RCV002087165] Chr3:8745750 [GRCh38]
Chr3:8787436 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.114+11C>T single nucleotide variant Long QT syndrome [RCV002080657]|not specified [RCV002469454] Chr3:8734001 [GRCh38]
Chr3:8775687 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.132G>A (p.Val44=) single nucleotide variant Cardiovascular phenotype [RCV002382380]|Long QT syndrome [RCV002160341] Chr3:8745543 [GRCh38]
Chr3:8787229 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.231C>G (p.Ser77=) single nucleotide variant Long QT syndrome [RCV002081394] Chr3:8745642 [GRCh38]
Chr3:8787328 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.163G>A (p.Asp55Asn) single nucleotide variant Long QT syndrome [RCV003121383] Chr3:8745574 [GRCh38]
Chr3:8787260 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.11:g.(?_6903076)_(9517775_?)del deletion not provided [RCV003122488] Chr3:6903076..9517775 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
Single allele microsatellite not provided [RCV002286955] Chr3:8746799..8746800 [GRCh38]
Chr3:8788485..8788486 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.270C>T (p.Phe90=) single nucleotide variant not provided [RCV002263309] Chr3:8745681 [GRCh38]
Chr3:8787367 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.284T>A (p.Ile95Asn) single nucleotide variant Cardiovascular phenotype [RCV002435351] Chr3:8745695 [GRCh38]
Chr3:8787381 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.372C>G (p.Cys124Trp) single nucleotide variant Cardiovascular phenotype [RCV002349160] Chr3:8745783 [GRCh38]
Chr3:8787469 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_033337.3(CAV3):c.288C>G (p.Ser96=) single nucleotide variant Cardiovascular phenotype [RCV002437892] Chr3:8745699 [GRCh38]
Chr3:8787385 [GRCh37]
Chr3:3p25.3		 likely benign
NM_033337.3(CAV3):c.48T>C (p.Asp16=) single nucleotide variant Cardiovascular phenotype [RCV002332416] Chr3:8733924 [GRCh38]
Chr3:8775610 [GRCh37]
Chr3:3p25.3		 likely benign
GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1 copy number loss not provided [RCV002472571] Chr3:61892..9899605 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1 copy number loss not provided [RCV002472587] Chr3:61892..9769457 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
NM_033337.3(CAV3):c.91A>T (p.Asn31Tyr) single nucleotide variant not provided [RCV002475089] Chr3:8733