DSC2 (desmocollin 2) - 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 Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) 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)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease 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 Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: DSC2 (desmocollin 2) Homo sapiens
Analyze
Symbol: DSC2
Name: desmocollin 2
RGD ID: 1319763
HGNC Page HGNC:3036
Description: Predicted to enable calcium ion binding activity. Involved in positive regulation of p38MAPK cascade and regulation of heart contraction. Located in several cellular components, including desmosome; endoplasmic reticulum; and intercalated disc. Implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 11. Biomarker of arrhythmogenic right ventricular cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARVD11; cadherin family member 2; CDHF2; desmocollin-2; desmosomal glycoprotein II; desmosomal glycoprotein II/III; desmosomal glycoprotein III; DG2; DGII/III; DKFZp686I11137; DSC3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381831,058,840 - 31,102,421 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1831,058,545 - 31,102,600 (-)EnsemblGRCh38hg38GRCh38
GRCh371828,638,806 - 28,682,384 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361826,900,004 - 26,936,375 (-)NCBINCBI36Build 36hg18NCBI36
Build 341826,900,004 - 26,936,375NCBI
Celera1825,454,102 - 25,490,553 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1825,501,800 - 25,538,229 (-)NCBIHuRef
CHM1_11828,572,977 - 28,609,424 (-)NCBICHM1_1
T2T-CHM13v2.01831,249,110 - 31,292,671 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetazolamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
cantharidin  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
chromium atom  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumestrol  (EXP)
cycloastragenol  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (EXP,ISO)
folpet  (ISO)
furfural  (EXP)
glafenine  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
graphite  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
okadaic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sodium dichromate  (ISO)
succimer  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP,ISO)
troglitazone  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Reduced expression of adherens and gap junction proteins can have a fundamental role in the development of heart failure following cardiac hypertrophy in rats. dos Santos DO, etal., Exp Mol Pathol. 2016 Feb;100(1):167-76. doi: 10.1016/j.yexmp.2015.12.009. Epub 2015 Dec 17.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. MicroRNA-130a Regulation of Desmocollin 2 in a Novel Model of Arrhythmogenic Cardiomyopathy. Mazurek SR, etal., Microrna. 2017;6(2):143-150. doi: 10.2174/2211536605666161109111031.
4. Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model. Moncayo-Arlandi J, etal., Hum Mol Genet. 2016 Sep 1;25(17):3676-3688. doi: 10.1093/hmg/ddw213. Epub 2016 Jul 12.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. Application quantitative proteomics approach to identify differentially expressed proteins associated with cardiac protection mediated by cycloastragenol in acute myocardial infarction rats. Ren YS, etal., J Proteomics. 2020 Jun 30;222:103691. doi: 10.1016/j.jprot.2020.103691. Epub 2020 Feb 14.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts. Vite A, etal., PLoS One. 2013 Sep 23;8(9):e75082. doi: 10.1371/journal.pone.0075082. eCollection 2013.
12. Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. Wong JA, etal., J Am Heart Assoc. 2014 Dec 11;3(6):e001407. doi: 10.1161/JAHA.114.001407.
Additional References at PubMed
PMID:1889810   PMID:2037591   PMID:2112455   PMID:7750520   PMID:7774948   PMID:7929347   PMID:7959727   PMID:8486729   PMID:8507556   PMID:8889548   PMID:9074502   PMID:9325054  
PMID:9404003   PMID:9443898   PMID:9810708   PMID:10737800   PMID:11790773   PMID:11853539   PMID:11870231   PMID:12477932   PMID:12707304   PMID:15489334   PMID:16335952   PMID:16740002  
PMID:17033975   PMID:17088906   PMID:17186466   PMID:17963498   PMID:18632414   PMID:18678517   PMID:18819935   PMID:18957847   PMID:19056867   PMID:19199708   PMID:19322201   PMID:19863551  
PMID:20031616   PMID:20031617   PMID:20197793   PMID:20215590   PMID:20301310   PMID:20525856   PMID:20621329   PMID:20864495   PMID:21062920   PMID:21220045   PMID:21325624   PMID:21873635  
PMID:21875946   PMID:22014052   PMID:22184201   PMID:22438068   PMID:22781308   PMID:23533145   PMID:23788249   PMID:23836524   PMID:23863954   PMID:23897914   PMID:23975055   PMID:24166502  
PMID:24793512   PMID:25119898   PMID:25283360   PMID:25576714   PMID:25676813   PMID:25809865   PMID:25972099   PMID:26167880   PMID:26186194   PMID:26310507   PMID:26496610   PMID:26498522  
PMID:26638075   PMID:26763450   PMID:27531918   PMID:28256248   PMID:28339476   PMID:28514442   PMID:29146182   PMID:29178656   PMID:29568061   PMID:30194290   PMID:30554943   PMID:30639242  
PMID:30942563   PMID:31056421   PMID:31073040   PMID:31239290   PMID:31386562   PMID:31407624   PMID:31594818   PMID:31753913   PMID:31871319   PMID:31967937   PMID:32201174   PMID:32788342  
PMID:33596089   PMID:33684294   PMID:33784018   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34244482   PMID:34709727   PMID:34732716   PMID:34819141   PMID:35023302   PMID:35284624  
PMID:35297182   PMID:35350332   PMID:35384245   PMID:35387118   PMID:35844135   PMID:36237976   PMID:36931259   PMID:36976175   PMID:37232246   PMID:37421607   PMID:37499664   PMID:37774976  
PMID:38569033   PMID:38671389   PMID:39231216  


Genomics

Comparative Map Data
DSC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381831,058,840 - 31,102,421 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1831,058,545 - 31,102,600 (-)EnsemblGRCh38hg38GRCh38
GRCh371828,638,806 - 28,682,384 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361826,900,004 - 26,936,375 (-)NCBINCBI36Build 36hg18NCBI36
Build 341826,900,004 - 26,936,375NCBI
Celera1825,454,102 - 25,490,553 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1825,501,800 - 25,538,229 (-)NCBIHuRef
CHM1_11828,572,977 - 28,609,424 (-)NCBICHM1_1
T2T-CHM13v2.01831,249,110 - 31,292,671 (-)NCBIT2T-CHM13v2.0
Dsc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391820,163,690 - 20,192,611 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1820,163,690 - 20,192,611 (-)EnsemblGRCm39 Ensembl
GRCm381820,030,633 - 20,059,554 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1820,030,633 - 20,059,554 (-)EnsemblGRCm38mm10GRCm38
MGSCv371820,189,299 - 20,218,006 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361820,173,808 - 20,202,515 (-)NCBIMGSCv36mm8
Celera1820,533,041 - 20,561,739 (-)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1811.14NCBI
Dsc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81811,725,466 - 11,757,591 (-)NCBIGRCr8
mRatBN7.21811,450,392 - 11,482,476 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1811,450,390 - 11,482,392 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1811,644,945 - 11,677,017 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01812,432,593 - 12,464,666 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01811,704,248 - 11,736,312 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01811,826,705 - 11,858,801 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1811,826,706 - 11,858,754 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01811,625,847 - 11,658,036 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41811,902,185 - 11,933,989 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11811,930,689 - 11,960,686 (-)NCBI
Celera1811,467,743 - 11,499,764 (-)NCBICelera
Cytogenetic Map18p12NCBI
Dsc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540218,464,989 - 18,489,475 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540218,465,631 - 18,496,948 (-)NCBIChiLan1.0ChiLan1.0
DSC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21748,471,325 - 48,507,896 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11834,163,920 - 34,200,470 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01824,296,505 - 24,332,997 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11827,894,596 - 27,930,838 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1827,894,603 - 27,930,843 (-)Ensemblpanpan1.1panPan2
DSC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1758,369,316 - 58,402,028 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl758,322,959 - 58,457,978 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha757,806,074 - 57,839,274 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0758,354,241 - 58,387,465 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl758,308,188 - 58,387,461 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1758,030,429 - 58,063,623 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0758,055,098 - 58,088,278 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0758,345,978 - 58,379,188 (+)NCBIUU_Cfam_GSD_1.0
Dsc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494454,055,760 - 54,089,453 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366822,057,190 - 2,164,429 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366822,057,331 - 2,091,034 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DSC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6114,980,601 - 115,021,305 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16114,982,259 - 115,021,332 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DSC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11849,596,870 - 49,637,587 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1849,599,940 - 49,639,526 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605024,246,069 - 24,283,869 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dsc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247701,748,276 - 1,781,117 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247701,748,561 - 1,778,566 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DSC2
1693 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000548556]|Cardiomyopathy [RCV001190699] Chr18:31070758 [GRCh38]
Chr18:28650724 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1889-10A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001494511] Chr18:31071851 [GRCh38]
Chr18:28651817 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.777C>T (p.Gly259=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000558886]|Cardiomyopathy [RCV001177889]|Cardiovascular phenotype [RCV002413559]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999356]|not provided [RCV001507398]|not specified [RCV005239182] Chr18:31086741 [GRCh38]
Chr18:28666704 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000555831]|Cardiomyopathy [RCV001177887]|Cardiovascular phenotype [RCV002431640]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999354]|not provided [RCV001591243] Chr18:31092189 [GRCh38]
Chr18:28672152 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_024422.6(DSC2):c.1841del (p.Ser614fs) deletion Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair [RCV000024331] Chr18:31074730 [GRCh38]
Chr18:28654696 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000204526]|Cardiomyopathy [RCV000029662]|DSC2-related disorder [RCV003924865]|not provided [RCV000757177]|not specified [RCV000039406] Chr18:31080266 [GRCh38]
Chr18:28660232 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000029663]|Arrhythmogenic right ventricular dysplasia 11 [RCV001080880]|Cardiomyopathy [RCV000776181]|Cardiovascular phenotype [RCV000617398]|DSC2-related disorder [RCV003944841]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV000148468]|Primary familial hypertrophic cardiomyopathy [RCV000157173]|not provided [RCV000233024]|not specified [RCV000039419] Chr18:31070782 [GRCh38]
Chr18:28650748 [GRCh37]
Chr18:18q12.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000029664]|Arrhythmogenic right ventricular dysplasia 11 [RCV000460762]|Cardiomyopathy [RCV000776014]|Cardiovascular phenotype [RCV000246266]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996117]|not provided [RCV001682710]|not specified [RCV000039421] Chr18:31069009 [GRCh38]
Chr18:28648975 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122945]|Cardiomyopathy [RCV000029665]|Cardiovascular phenotype [RCV004018685]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996118]|Long QT syndrome [RCV003318335]|not provided [RCV000171894]|not specified [RCV003488350] Chr18:31086683 [GRCh38]
Chr18:28666646 [GRCh37]
Chr18:18q12.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.942+16A>T single nucleotide variant Cardiomyopathy [RCV000029666]|not specified [RCV000039447] Chr18:31086560 [GRCh38]
Chr18:28666526 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1430del (p.Thr477fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000018342] Chr18:31080186 [GRCh38]
Chr18:28660152 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) insertion Arrhythmogenic right ventricular cardiomyopathy, type 11 [RCV000018343] Chr18:31068033..31068034 [GRCh38]
Chr18:28647999..28648000 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.631-2A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV004017258]|Arrhythmogenic right ventricular dysplasia 11 [RCV000018344]|Cardiomyopathy [RCV001183801]|Cardiovascular phenotype [RCV003338383]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996109]|not provided [RCV000181140] Chr18:31087815 [GRCh38]
Chr18:28667778 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024422.6(DSC2):c.2103G>A (p.Leu701=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000543662]|Cardiomyopathy [RCV003532174]|Cardiovascular phenotype [RCV002420465]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999350]|not specified [RCV002282220] Chr18:31071627 [GRCh38]
Chr18:28651593 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000556398]|Cardiomyopathy [RCV001176070]|Cardiovascular phenotype [RCV002431639]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999352]|not provided [RCV001722498]|not specified [RCV003114668] Chr18:31070750 [GRCh38]
Chr18:28650716 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.741T>C (p.Thr247=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631143]|not specified [RCV000602634] Chr18:31087703 [GRCh38]
Chr18:28667666 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001299593]|Cardiomyopathy [RCV003532155]|Cardiovascular phenotype [RCV004619312]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003611]|not provided [RCV000521284] Chr18:31080195 [GRCh38]
Chr18:28660161 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_024422.6(DSC2):c.2416C>T (p.Leu806=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000551219] Chr18:31068986 [GRCh38]
Chr18:28648952 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000547700] Chr18:31083007 [GRCh38]
Chr18:28662973 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.-408T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000358168]|not specified [RCV000039398] Chr18:31102379 [GRCh38]
Chr18:28682342 [GRCh37]
Chr18:18q12.1		 uncertain significance|not provided
NM_024422.6(DSC2):c.1001G>T (p.Gly334Val) single nucleotide variant not specified [RCV000039399] Chr18:31083002 [GRCh38]
Chr18:28662968 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000210891]|Arrhythmogenic right ventricular dysplasia 11 [RCV000228131]|Cardiac arrest [RCV000157171]|Cardiomyopathy [RCV000770540]|Cardiovascular phenotype [RCV000243453]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806038]|not provided [RCV000172527]|not specified [RCV000039400] Chr18:31082930 [GRCh38]
Chr18:28662896 [GRCh37]
Chr18:18q12.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1077+2T>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV004017331]|Cardiomyopathy [RCV001185737]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996430] Chr18:31082924 [GRCh38]
Chr18:28662890 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000823602]|Cardiomyopathy [RCV001182265]|Cardiovascular phenotype [RCV003338393]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996431]|Primary dilated cardiomyopathy [RCV000852470]|not provided [RCV000766662]|not specified [RCV000039402] Chr18:31082410 [GRCh38]
Chr18:28662376 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.111A>G (p.Leu37=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000614345]|Cardiomyopathy [RCV000775999]|Cardiovascular phenotype [RCV000253441]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996432]|not provided [RCV000845337]|not specified [RCV000039403] Chr18:31093602 [GRCh38]
Chr18:28673565 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1264-5C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000232000]|Cardiomyopathy [RCV000770539]|Cardiovascular phenotype [RCV000250354]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996433]|not provided [RCV001719758]|not specified [RCV000039405] Chr18:31080357 [GRCh38]
Chr18:28660323 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000800605]|Cardiomyopathy [RCV001177611]|Cardiovascular phenotype [RCV002390167]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996434]|not provided [RCV004589533]|not specified [RCV000039407] Chr18:31093564 [GRCh38]
Chr18:28673527 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1521-5A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002054759]|Cardiomyopathy [RCV001177413]|not specified [RCV000039408] Chr18:31079994 [GRCh38]
Chr18:28659960 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.154+1G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000039409] Chr18:31093558 [GRCh38]
Chr18:28673521 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000540622]|Cardiomyopathy [RCV001186899]|Cardiovascular phenotype [RCV002399383]|not specified [RCV000039410] Chr18:31079958 [GRCh38]
Chr18:28659924 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000624058]|Arrhythmogenic right ventricular dysplasia 11 [RCV000542128]|Cardiomyopathy [RCV000770535]|Cardiovascular phenotype [RCV000621035]|not provided [RCV000171890]|not specified [RCV000039411] Chr18:31074842 [GRCh38]
Chr18:28654808 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000238623]|Arrhythmogenic right ventricular dysplasia 11 [RCV001085383]|Cardiomyopathy [RCV000770533]|Cardiovascular phenotype [RCV000246946]|DSC2-related disorder [RCV003924944]|not provided [RCV000172526]|not specified [RCV000039412] Chr18:31074784 [GRCh38]
Chr18:28654750 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000625298]|Cardiomyopathy [RCV001177612]|not provided [RCV001537802]|not specified [RCV000039413] Chr18:31071829 [GRCh38]
Chr18:28651795 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001081432]|Cardiomyopathy [RCV000776094]|Cardiovascular phenotype [RCV002408524]|DSC2-related disorder [RCV003934941]|Hypertrophic cardiomyopathy [RCV000852737]|not provided [RCV000172525]|not specified [RCV000039414] Chr18:31071816 [GRCh38]
Chr18:28651782 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) single nucleotide variant Cardiomyopathy [RCV001183803]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806039]|not provided [RCV002468994]|not specified [RCV000039415] Chr18:31071792 [GRCh38]
Chr18:28651758 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126574]|Cardiomyopathy [RCV001182266]|Cardiovascular phenotype [RCV004018890]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996435]|not provided [RCV001311137]|not specified [RCV000039416] Chr18:31071759 [GRCh38]
Chr18:28651725 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002513544]|not specified [RCV000039417] Chr18:31071648 [GRCh38]
Chr18:28651614 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005089368]|Cardiomyopathy [RCV001178862]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996436]|not specified [RCV000039418] Chr18:31069045 [GRCh38]
Chr18:28649011 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000611360]|Cardiomyopathy [RCV000776000]|Cardiovascular phenotype [RCV000250993]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996437]|not provided [RCV001668167]|not specified [RCV000039420] Chr18:31069076 [GRCh38]
Chr18:28649042 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000226818]|Cardiomyopathy [RCV001178863]|Cardiovascular phenotype [RCV004018891]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996438]|not provided [RCV001659978]|not specified [RCV000039422] Chr18:31069009 [GRCh38]
Chr18:28648975 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2398del (p.Ala800fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV002513545]|not provided [RCV001531280]|not specified [RCV000039423] Chr18:31069004 [GRCh38]
Chr18:28648970 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000408189]|DSC2-related disorder [RCV003894867]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996439]|not specified [RCV000039424] Chr18:31068956 [GRCh38]
Chr18:28648922 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000229598]|Cardiomyopathy [RCV001175843]|Cardiovascular phenotype [RCV000244558]|not provided [RCV000766860]|not specified [RCV000039425] Chr18:31068904 [GRCh38]
Chr18:28648870 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000227283]|Cardiomyopathy [RCV000776155]|Cardiovascular phenotype [RCV000246287]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996440]|not provided [RCV000756035]|not specified [RCV000039426] Chr18:31068134 [GRCh38]
Chr18:28648100 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000467067]|Cardiomyopathy [RCV000771843]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996441]|not provided [RCV001795012]|not specified [RCV000039427] Chr18:31068105 [GRCh38]
Chr18:28648071 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.267G>A (p.Ser89=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005089369]|Cardiovascular phenotype [RCV002426573]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996442]|not specified [RCV000039428] Chr18:31092188 [GRCh38]
Chr18:28672151 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000202657]|Arrhythmogenic right ventricular dysplasia 11 [RCV000018343]|Cardiomyopathy [RCV000181132]|Cardiovascular phenotype [RCV000253786]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003993761]|Primary familial hypertrophic cardiomyopathy [RCV000157178]|not provided [RCV000845558]|not specified [RCV000039429] Chr18:31068033..31068034 [GRCh38]
Chr18:28647999..28648000 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.270G>A (p.Glu90=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000231166]|Cardiomyopathy [RCV000777785]|Cardiovascular phenotype [RCV000250066]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996443]|not provided [RCV000858514]|not specified [RCV000039430] Chr18:31092185 [GRCh38]
Chr18:28672148 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.351A>G (p.Thr117=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000231054]|Cardiomyopathy [RCV000769501]|Cardiovascular phenotype [RCV000251164]|not provided [RCV001719759]|not specified [RCV000039431] Chr18:31092104 [GRCh38]
Chr18:28672067 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000148467]|Arrhythmogenic right ventricular dysplasia 11 [RCV000232838]|Cardiomyopathy [RCV000769503]|Cardiovascular phenotype [RCV000248994]|DSC2-related disorder [RCV004748546]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806040]|not provided [RCV001172124]|not specified [RCV000039432] Chr18:31092151 [GRCh38]
Chr18:28672114 [GRCh37]
Chr18:18q12.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000625301]|Cardiomyopathy [RCV000777975]|Cardiovascular phenotype [RCV002321517]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996444]|not provided [RCV000766855]|not specified [RCV000039433] Chr18:31092128 [GRCh38]
Chr18:28672091 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000473329]|Cardiomyopathy [RCV000769505]|Cardiovascular phenotype [RCV000250184]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996445]|not provided [RCV001711153]|not specified [RCV000039434] Chr18:31101940 [GRCh38]
Chr18:28681903 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.474+5C>A single nucleotide variant not specified [RCV000039435] Chr18:31091023 [GRCh38]
Chr18:28670986 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_004949.5(DSC2):c.630+8_630+10delinsTT indel not specified [RCV000039436] Chr18:31089429..31089431 [GRCh38]
Chr18:28669392..28669394 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.702G>A (p.Glu234=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002054760]|Cardiomyopathy [RCV001804764]|not specified [RCV000039438] Chr18:31087742 [GRCh38]
Chr18:28667705 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.776-12T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002054761]|Cardiomyopathy [RCV001181342]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996446]|not specified [RCV000039439] Chr18:31086754 [GRCh38]
Chr18:28666717 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005089370]|Cardiomyopathy [RCV003531939]|Cardiovascular phenotype [RCV004018892]|not provided [RCV001762122]|not specified [RCV000039440] Chr18:31086694 [GRCh38]
Chr18:28666657 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.844T>C (p.Tyr282His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517133]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996447]|not specified [RCV000039441] Chr18:31086674 [GRCh38]
Chr18:28666637 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001781361]|not provided [RCV000181144] Chr18:31086672 [GRCh38]
Chr18:28666635 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000608268]|Cardiomyopathy [RCV001181113]|Cardiovascular phenotype [RCV004619196]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996448]|not provided [RCV001552905]|not specified [RCV000039443] Chr18:31086653 [GRCh38]
Chr18:28666616 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.893A>T (p.His298Leu) single nucleotide variant Cardiomyopathy [RCV001184220]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996449]|not specified [RCV000039444] Chr18:31086625 [GRCh38]
Chr18:28666588 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.907G>A (p.Val303Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000227622]|Cardiomyopathy [RCV000771128]|Cardiovascular phenotype [RCV000621747]|not provided [RCV000858410]|not specified [RCV000039445] Chr18:31086611 [GRCh38]
Chr18:28666574 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.942+13_942+15dup duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000265485]|Arrhythmogenic right ventricular dysplasia 11 [RCV000625299]|Cardiovascular phenotype [RCV002444491]|not provided [RCV001636629]|not specified [RCV000039446] Chr18:31086560..31086561 [GRCh38]
Chr18:28666526..28666527 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000039448]|Arrhythmogenic right ventricular dysplasia 11 [RCV001781362]|Cardiomyopathy [RCV000769504]|Cardiovascular phenotype [RCV003338394]|DSC2-related disorder [RCV003398606]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996450]|not provided [RCV001824284] Chr18:31093617 [GRCh38]
Chr18:28673580 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000696455]|Cardiomyopathy [RCV001181343]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996451]|not provided [RCV004814965]|not specified [RCV000039449] Chr18:31083026 [GRCh38]
Chr18:28662992 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1 copy number loss See cases [RCV000051090] Chr18:29444510..40403652 [GRCh38]
Chr18:27024475..37983616 [GRCh37]
Chr18:25278473..36237614 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:31016495-31171928)x1 copy number loss See cases [RCV000052076] Chr18:31016495..31171928 [GRCh38]
Chr18:28596461..28751891 [GRCh37]
Chr18:26850459..27005889 [NCBI36]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:29444510-31247986)x3 copy number gain See cases [RCV000054081] Chr18:29444510..31247986 [GRCh38]
Chr18:27024475..28827949 [GRCh37]
Chr18:25278473..27081947 [NCBI36]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3 copy number gain See cases [RCV000054082] Chr18:29879161..31727247 [GRCh38]
Chr18:27459126..29307210 [GRCh37]
Chr18:25713124..27561208 [NCBI36]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001854265]|Cardiomyopathy [RCV001179315]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996565]|not provided [RCV001762169] Chr18:31071812 [GRCh38]
Chr18:28651778 [GRCh37]
Chr18:26905776 [NCBI36]
Chr18:18q12.1		 uncertain significance|not provided
NM_024422.6(DSC2):c.1138G>A (p.Asp380Asn) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014886] Chr18:31082363 [GRCh38]
Chr18:28662329 [GRCh37]
Chr18:26916327 [NCBI36]
Chr18:18q12.1		 uncertain significance|not provided
NM_024422.6(DSC2):c.565G>A (p.Glu189Lys) single nucleotide variant Cardiomyopathy [RCV003533606] Chr18:31089504 [GRCh38]
Chr18:28669467 [GRCh37]
Chr18:26923465 [NCBI36]
Chr18:18q12.1		 uncertain significance|not provided
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001065143]|Cardiovascular phenotype [RCV004019075]|not specified [RCV000155026] Chr18:31089462 [GRCh38]
Chr18:28669425 [GRCh37]
Chr18:26923423 [NCBI36]
Chr18:18q12.1		 likely pathogenic|uncertain significance|not provided
NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter) single nucleotide variant not provided [RCV000657800] Chr18:31082334 [GRCh38]
Chr18:28662300 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_004949.5(DSC2):c.1234dup (p.Thr412fs) duplication not provided [RCV001575584]|not specified [RCV000039404] Chr18:31082266..31082267 [GRCh38]
Chr18:28662232..28662233 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000225772]|Cardiomyopathy [RCV000770536]|Cardiovascular phenotype [RCV000619096]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997424]|not provided [RCV001529812]|not specified [RCV000154626] Chr18:31074852 [GRCh38]
Chr18:28654818 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_024422.6(DSC2):c.-45A>C single nucleotide variant not specified [RCV000124789] Chr18:31102016 [GRCh38]
Chr18:28681979 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV001256829]|Arrhythmogenic right ventricular dysplasia 11 [RCV000990080]|Cardiomyopathy [RCV001183304]|Cardiovascular phenotype [RCV002354337]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV000148466]|not provided [RCV001582617] Chr18:31082985 [GRCh38]
Chr18:28662951 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000148469]|Arrhythmogenic right ventricular dysplasia 11 [RCV000456802]|Cardiomyopathy [RCV001180330]|Cardiovascular phenotype [RCV002444604]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998167]|not specified [RCV005237581] Chr18:31068931 [GRCh38]
Chr18:28648897 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1163A>T (p.Asn388Ile) single nucleotide variant Cardiomyopathy [RCV000143879] Chr18:31082338 [GRCh38]
Chr18:28662304 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000553381]|Cardiomyopathy [RCV000770537]|Cardiovascular phenotype [RCV002399511]|Primary dilated cardiomyopathy [RCV000143880]|not provided [RCV001568859] Chr18:31079951 [GRCh38]
Chr18:28659917 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1780A>G (p.Ile594Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001294310]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004952] Chr18:31074791 [GRCh38]
Chr18:28654757 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.46C>T (p.Arg16Trp) single nucleotide variant Cardiomyopathy [RCV001180515]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006664] Chr18:31101926 [GRCh38]
Chr18:28681889 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093832]|Cardiomyopathy [RCV001180522]|Cardiovascular phenotype [RCV002393406] Chr18:31080144 [GRCh38]
Chr18:28660110 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2509-111_2509-110del microsatellite not provided [RCV000171887] Chr18:31068322..31068323 [GRCh38]
Chr18:28648288..28648289 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.4(DSC2):c.2364_2366delAGG (p.Gly790del) deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000171831]|Cardiomyopathy, arrhythmogenic right ventricular dysplasia [RCV000171831] Chr18:31069036..31069038 [GRCh38]
Chr18:28649002..28649004 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.4(DSC2):c.2685_2686dupAG (p.Ala897Lysfs) duplication not specified [RCV000172745] Chr18:31068035..31068036 [GRCh38]
Chr18:28648001..28648002 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2392C>A (p.Arg798=) single nucleotide variant not provided [RCV000172524] Chr18:31069010 [GRCh38]
Chr18:28648976 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644646]|Cardiomyopathy [RCV000778022]|Cardiovascular phenotype [RCV000618174]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995655]|not provided [RCV000171888] Chr18:31069067 [GRCh38]
Chr18:28649033 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644644]|Cardiomyopathy [RCV001179306]|Cardiovascular phenotype [RCV000242264]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995656]|not provided [RCV000171889] Chr18:31069088 [GRCh38]
Chr18:28649054 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001294732]|Cardiomyopathy [RCV000772174]|Cardiovascular phenotype [RCV003165356]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995657]|not provided [RCV000171891] Chr18:31074864 [GRCh38]
Chr18:28654830 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001087574]|Cardiomyopathy [RCV001179307]|Cardiovascular phenotype [RCV002415731]|DSC2-related disorder [RCV003965231]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806158]|not provided [RCV000171892]|not specified [RCV000181148] Chr18:31082933 [GRCh38]
Chr18:28662899 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000705660]|Cardiomyopathy [RCV001187577]|Cardiovascular phenotype [RCV000618085]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995658]|not provided [RCV000171893]|not specified [RCV000214695] Chr18:31086661 [GRCh38]
Chr18:28666624 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644635]|Cardiomyopathy [RCV001187668]|Cardiovascular phenotype [RCV002381558]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995659]|not provided [RCV000171895] Chr18:31087710 [GRCh38]
Chr18:28667673 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:29365057-31236305)x1 copy number loss See cases [RCV000139894] Chr18:29365057..31236305 [GRCh38]
Chr18:26945022..28816268 [GRCh37]
Chr18:25199020..27070266 [NCBI36]
Chr18:18q12.1		 pathogenic
GRCh38/hg38 18q12.1(chr18:30496396-31108811)x3 copy number gain See cases [RCV000140923] Chr18:30496396..31108811 [GRCh38]
Chr18:28076362..28688774 [GRCh37]
Chr18:26330360..26942772 [NCBI36]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 copy number gain See cases [RCV000141646] Chr18:20949378..34363455 [GRCh38]
Chr18:18529339..31943419 [GRCh37]
Chr18:16783337..30197417 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000203139]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997055] Chr18:31068057 [GRCh38]
Chr18:28648023 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000230389]|Cardiomyopathy [RCV003531985]|Cardiovascular phenotype [RCV002354373]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998289]|Primary dilated cardiomyopathy [RCV003319180]|Sudden unexplained death [RCV005054164]|not provided [RCV000996663]|not specified [RCV000155749] Chr18:31091108 [GRCh38]
Chr18:28671071 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000149890]|Arrhythmogenic right ventricular dysplasia 11 [RCV000458517]|Cardiovascular phenotype [RCV004019796]|not provided [RCV000181141] Chr18:31087781 [GRCh38]
Chr18:28667744 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.-298C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001127074]|not provided [RCV000830599]|not specified [RCV000150531] Chr18:31102269 [GRCh38]
Chr18:28682232 [GRCh37]
Chr18:18q12.1		 likely benign|not provided
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser) single nucleotide variant not provided [RCV003319323]|not specified [RCV000150518] Chr18:31069139 [GRCh38]
Chr18:28649105 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001087864]|Cardiomyopathy [RCV000770534]|Cardiovascular phenotype [RCV002399523]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998184]|not provided [RCV000827676]|not specified [RCV000150519] Chr18:31074795 [GRCh38]
Chr18:28654761 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000465207]|Cardiomyopathy [RCV000771761]|Cardiovascular phenotype [RCV000618172]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998185]|not provided [RCV003884360]|not specified [RCV000150522] Chr18:31074891 [GRCh38]
Chr18:28654857 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.1591A>C (p.Arg531=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001452575]|Cardiomyopathy [RCV000771894]|not specified [RCV000150523] Chr18:31079919 [GRCh38]
Chr18:28659885 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000461667]|Cardiomyopathy [RCV001188342]|Cardiovascular phenotype [RCV002399524]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998186]|not specified [RCV000150524] Chr18:31079973 [GRCh38]
Chr18:28659939 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.70-11del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000625012]|Cardiomyopathy [RCV001185996]|not specified [RCV000150530] Chr18:31093654 [GRCh38]
Chr18:28673617 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000157176]|Arrhythmogenic right ventricular dysplasia 11 [RCV000538816]|Cardiomyopathy [RCV001184541]|Cardiovascular phenotype [RCV002426754]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998301]|not provided [RCV000767139]|not specified [RCV000156162] Chr18:31068098 [GRCh38]
Chr18:28648064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1077+11G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002056119]|not specified [RCV000156229] Chr18:31082915 [GRCh38]
Chr18:28662881 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001302850]|Cardiomyopathy [RCV003531986]|Cardiovascular phenotype [RCV004019876]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998307]|not specified [RCV000156291] Chr18:31068095 [GRCh38]
Chr18:28648061 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-302C>T single nucleotide variant not specified [RCV000156308] Chr18:31102273 [GRCh38]
Chr18:28682236 [GRCh37]
Chr18:18q12.1		 not provided
NM_024422.6(DSC2):c.-243_-234del deletion not provided [RCV000833558]|not specified [RCV000154495] Chr18:31102205..31102214 [GRCh38]
Chr18:28682168..28682177 [GRCh37]
Chr18:18q12.1		 likely benign|not provided
NM_024422.6(DSC2):c.-222C>A single nucleotide variant not specified [RCV000156599] Chr18:31102193 [GRCh38]
Chr18:28682156 [GRCh37]
Chr18:18q12.1		 not provided
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001850167]|not specified [RCV000156649] Chr18:31087723 [GRCh38]
Chr18:28667686 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000868396]|Cardiomyopathy [RCV001186911]|Cardiovascular phenotype [RCV002426744]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998258]|not provided [RCV001711214]|not specified [RCV000154698] Chr18:31070837 [GRCh38]
Chr18:28650803 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001068652]|Cardiomyopathy [RCV001178119]|Cardiovascular phenotype [RCV002399542]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998259]|not provided [RCV000588984]|not specified [RCV000154699] Chr18:31074850 [GRCh38]
Chr18:28654816 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000466138]|Cardiomyopathy [RCV000777997]|Cardiovascular phenotype [RCV000252152]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998260]|not provided [RCV000656842]|not specified [RCV000154700] Chr18:31086716 [GRCh38]
Chr18:28666679 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001123910]|Cardiomyopathy [RCV001525548]|not specified [RCV000156917] Chr18:31069004 [GRCh38]
Chr18:28648970 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001490871]|Cardiovascular phenotype [RCV002426751]|not specified [RCV000155685] Chr18:31070768 [GRCh38]
Chr18:28650734 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.2197G>A (p.Ala733Thr) single nucleotide variant Long QT syndrome [RCV000157174] Chr18:31070779 [GRCh38]
Chr18:28650745 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000157175]|Arrhythmogenic right ventricular dysplasia 11 [RCV000461186]|Cardiomyopathy [RCV000770529]|Cardiovascular phenotype [RCV002426764]|Hypertrophic cardiomyopathy [RCV000852735]|not specified [RCV000181166] Chr18:31068905 [GRCh38]
Chr18:28648871 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) microsatellite Arrhythmogenic right ventricular cardiomyopathy [RCV000157177]|Arrhythmogenic right ventricular dysplasia 11 [RCV000472144]|Cardiomyopathy [RCV000771253]|Cardiovascular phenotype [RCV000253898]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV000626335]|Hypertrophic cardiomyopathy [RCV000852736]|not provided [RCV001723728]|not specified [RCV000215675] Chr18:31069032..31069034 [GRCh38]
Chr18:28648998..28649000 [GRCh37]
Chr18:26903000..26903002 [NCBI36]
Chr18:18q12.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.371A>G (p.His124Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001852260]|Cardiomyopathy [RCV001190445]|Cardiovascular phenotype [RCV004020181]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806167]|not specified [RCV000181124] Chr18:31091131 [GRCh38]
Chr18:28671094 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.631-13dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001196780]|Cardiomyopathy [RCV000181125] Chr18:31087825..31087826 [GRCh38]
Chr18:28667788..28667789 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001361377]|Cardiomyopathy [RCV003532012]|not specified [RCV000181128] Chr18:31080106 [GRCh38]
Chr18:28660072 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002515304]|Cardiomyopathy [RCV001185493]|Cardiovascular phenotype [RCV004619211]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996594]|not provided [RCV000181130] Chr18:31071697 [GRCh38]
Chr18:28651663 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001061930]|Cardiomyopathy [RCV000769506]|Cardiovascular phenotype [RCV002444725]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996595]|not provided [RCV000181133]|not specified [RCV000825917] Chr18:31101949 [GRCh38]
Chr18:28681912 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.26C>G (p.Ser9Cys) single nucleotide variant Cardiomyopathy [RCV001804911]|not provided [RCV000181134] Chr18:31101946 [GRCh38]
Chr18:28681909 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.431T>C (p.Met144Thr) single nucleotide variant not provided [RCV000181137] Chr18:31091071 [GRCh38]
Chr18:28671034 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.536A>G (p.Asp179Gly) single nucleotide variant not provided [RCV000181138] Chr18:31089533 [GRCh38]
Chr18:28669496 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.4(DSC2):c.604G>A (p.Asp202Asn) single nucleotide variant Cardiomyopathy [RCV000181139] Chr18:31089465 [GRCh38]
Chr18:28669428 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001307086]|Cardiomyopathy [RCV001190474]|Cardiovascular phenotype [RCV002381584]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996596]|not provided [RCV000181142] Chr18:31087699 [GRCh38]
Chr18:28667662 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000818516]|Cardiomyopathy [RCV001185494]|Cardiovascular phenotype [RCV004020182]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996597]|not provided [RCV000181145] Chr18:31086617 [GRCh38]
Chr18:28666580 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.994T>C (p.Tyr332His) single nucleotide variant Cardiomyopathy [RCV001798634]|Cardiovascular phenotype [RCV002381585]|not provided [RCV000181147] Chr18:31083009 [GRCh38]
Chr18:28662975 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000812062]|Cardiomyopathy [RCV001189655]|Cardiovascular phenotype [RCV003380505]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996598]|not provided [RCV000181149] Chr18:31082270 [GRCh38]
Chr18:28662236 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002516830]|not provided [RCV000766858]|not specified [RCV000181150] Chr18:31080264 [GRCh38]
Chr18:28660230 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1521-13T>A single nucleotide variant Cardiomyopathy [RCV001190475]|not provided [RCV000181151] Chr18:31080002 [GRCh38]
Chr18:28659968 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1576T>G (p.Ser526Ala) single nucleotide variant not provided [RCV000181153] Chr18:31079934 [GRCh38]
Chr18:28659900 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000795606]|Cardiovascular phenotype [RCV002426866]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996599] Chr18:31070829 [GRCh38]
Chr18:28650795 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000765410]|Cardiomyopathy [RCV001179585]|Cardiovascular phenotype [RCV002426867]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996600]|not provided [RCV001699057] Chr18:31070731 [GRCh38]
Chr18:28650697 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000693608]|Cardiomyopathy [RCV001179586]|Cardiovascular phenotype [RCV002444726]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996601]|not provided [RCV000181162] Chr18:31069104 [GRCh38]
Chr18:28649070 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000526044]|Cardiomyopathy [RCV001189656]|Cardiovascular phenotype [RCV003165380]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996602]|not provided [RCV000181163] Chr18:31069084 [GRCh38]
Chr18:28649050 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631094]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996603]|not provided [RCV000181165] Chr18:31069006 [GRCh38]
Chr18:28648972 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000475212]|Cardiomyopathy [RCV001184989]|Cardiovascular phenotype [RCV000619644]|DSC2-related disorder [RCV003917691]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996604]|not provided [RCV001701546]|not specified [RCV000181169] Chr18:31068085 [GRCh38]
Chr18:28648051 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000546172]|Cardiomyopathy [RCV000778023]|Cardiovascular phenotype [RCV000619111]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996605]|not provided [RCV000181170]|not specified [RCV001002111] Chr18:31101968 [GRCh38]
Chr18:28681931 [GRCh37]
Chr18:18q12.1		 likely pathogenic|likely benign|uncertain significance
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001085942]|Cardiomyopathy [RCV001171303]|Cardiovascular phenotype [RCV002453642]|DSC2-related disorder [RCV003947543]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996606]|not provided [RCV001535410]|not specified [RCV000181171] Chr18:31101938 [GRCh38]
Chr18:28681901 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_024422.6(DSC2):c.2125+1del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000601575]|Dilated cardiomyopathy 1A [RCV001256686]|not provided [RCV000181172]|not specified [RCV000611988] Chr18:31071604 [GRCh38]
Chr18:28651570 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_024422.6(DSC2):c.2487del (p.Phe829fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003517141]|not provided [RCV000181174] Chr18:31068915 [GRCh38]
Chr18:28648881 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.356T>A (p.Val119Asp) single nucleotide variant not provided [RCV000181175] Chr18:31091146 [GRCh38]
Chr18:28671109 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001080415]|Cardiomyopathy [RCV000776122]|Cardiovascular phenotype [RCV000617594]|not provided [RCV000587969]|not specified [RCV000181176] Chr18:31091132 [GRCh38]
Chr18:28671095 [GRCh37]
Chr18:18q12.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001301618]|Cardiomyopathy [RCV001176345]|Cardiovascular phenotype [RCV002433784]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996607]|not provided [RCV000181177]|not specified [RCV001260409] Chr18:31082378 [GRCh38]
Chr18:28662344 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys) single nucleotide variant Cardiomyopathy [RCV003532013]|not provided [RCV000181178] Chr18:31080340 [GRCh38]
Chr18:28660306 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000457468]|Cardiomyopathy [RCV001184496]|Cardiovascular phenotype [RCV000619240]|DSC2-related disorder [RCV003955105]|not provided [RCV001729432]|not specified [RCV000181179] Chr18:31074782 [GRCh38]
Chr18:28654748 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001852261]|Cardiomyopathy [RCV001181592]|Cardiovascular phenotype [RCV002453643]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996608]|not provided [RCV002223805] Chr18:31068145 [GRCh38]
Chr18:28648111 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) indel Arrhythmogenic right ventricular dysplasia 11 [RCV002517769]|Cardiomyopathy [RCV003532014]|Cardiovascular phenotype [RCV003165381]|not provided [RCV000181181] Chr18:31068173 [GRCh38]
Chr18:28648139 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV000818101]|Cardiomyopathy [RCV001170828]|Cardiovascular phenotype [RCV002426868] Chr18:31068135..31068136 [GRCh38]
Chr18:28648101..28648102 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.748T>G (p.Phe250Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000546252] Chr18:31087696 [GRCh38]
Chr18:28667659 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000546996]|Cardiovascular phenotype [RCV002413558]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999349] Chr18:31071796 [GRCh38]
Chr18:28651762 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000204467]|Cardiovascular phenotype [RCV002426970]|DSC2-related disorder [RCV003977573]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806207] Chr18:31086700 [GRCh38]
Chr18:28666663 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1219G>T (p.Val407Leu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997672]|Primary familial hypertrophic cardiomyopathy [RCV000208184] Chr18:31082282 [GRCh38]
Chr18:28662248 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000208003]|Arrhythmogenic right ventricular dysplasia 11 [RCV001303072]|Cardiovascular phenotype [RCV004992081]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997671] Chr18:31086694 [GRCh38]
Chr18:28666657 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.47G>C (p.Arg16Pro) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000208353] Chr18:31101925 [GRCh38]
Chr18:28681888 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) indel Arrhythmogenic right ventricular dysplasia 11 [RCV000806733]|Cardiovascular phenotype [RCV000621279]|Primary dilated cardiomyopathy [RCV000208375]|not specified [RCV001778796] Chr18:31071717..31071718 [GRCh38]
Chr18:28651683..28651684 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1264-4G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001473227]|Cardiomyopathy [RCV001183227]|Cardiovascular phenotype [RCV003298270]|Primary familial hypertrophic cardiomyopathy [RCV000208017]|not specified [RCV000601421] Chr18:31080356 [GRCh38]
Chr18:28660322 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002500710]|Cardiomyopathy [RCV001524245]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997725]|not provided [RCV001753642]|not specified [RCV000222161] Chr18:31082955 [GRCh38]
Chr18:28662921 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003114380]|Cardiovascular phenotype [RCV004020617]|not provided [RCV002508200]|not specified [RCV000217409] Chr18:31089485 [GRCh38]
Chr18:28669448 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1521-7C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000547339]|Cardiomyopathy [RCV000776296]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997700]|not provided [RCV001705192]|not specified [RCV000217764] Chr18:31079996 [GRCh38]
Chr18:28659962 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000558579]|Cardiomyopathy [RCV001182795]|Cardiovascular phenotype [RCV002347840]|DSC2-related disorder [RCV003967589]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997726]|Hypertrophic cardiomyopathy [RCV000852738]|not provided [RCV001658017]|not specified [RCV000215449] Chr18:31089522 [GRCh38]
Chr18:28669485 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.-113C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002485383]|not specified [RCV000213904] Chr18:31102084 [GRCh38]
Chr18:28682047 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2174C>T (p.Pro725Leu) single nucleotide variant not specified [RCV000221078] Chr18:31070802 [GRCh38]
Chr18:28650768 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000559408]|Cardiomyopathy [RCV000771862]|Cardiovascular phenotype [RCV002415890]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997699]|not provided [RCV003326375]|not specified [RCV000221341] Chr18:31071711 [GRCh38]
Chr18:28651677 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001041132]|Cardiovascular phenotype [RCV002347841]|not specified [RCV000219122] Chr18:31089495 [GRCh38]
Chr18:28669458 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.395G>A (p.Arg132His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000552860]|Cardiomyopathy [RCV001177624]|Cardiovascular phenotype [RCV002358540]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999355]|not provided [RCV001811054] Chr18:31091107 [GRCh38]
Chr18:28671070 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000285235]|Arrhythmogenic right ventricular dysplasia 11 [RCV001853446]|DSC2-related disorder [RCV004748663]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003997727]|not provided [RCV000658360]|not specified [RCV000221635] Chr18:31087696..31087701 [GRCh38]
Chr18:28667659..28667664 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) single nucleotide variant ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA [RCV000224990]|Arrhythmogenic right ventricular dysplasia 11 [RCV001854779]|not provided [RCV000254959] Chr18:31079850 [GRCh38]
Chr18:28659816 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1935A>G (p.Ser645=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001423265] Chr18:31071795 [GRCh38]
Chr18:28651761 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001045823]|Cardiomyopathy [RCV001176601]|Cardiovascular phenotype [RCV000246853]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998651]|Primary familial dilated cardiomyopathy [RCV000622276]|not provided [RCV002051829]|not specified [RCV000223928] Chr18:31093631 [GRCh38]
Chr18:28673594 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.408A>G (p.Arg136=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000533412]|Cardiomyopathy [RCV000771973]|Cardiovascular phenotype [RCV000250186]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998650]|not specified [RCV000223837] Chr18:31091094 [GRCh38]
Chr18:28671057 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2251-5T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001248696]|Cardiomyopathy [RCV001176599]|Cardiovascular phenotype [RCV002444874]|DSC2-related disorder [RCV003919897]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998649]|not provided [RCV001571072]|not specified [RCV000223919] Chr18:31069156 [GRCh38]
Chr18:28649122 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000853178]|Arrhythmogenic right ventricular dysplasia 11 [RCV000226472]|Cardiomyopathy [RCV001524120]|Cardiovascular phenotype [RCV000619062]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998886]|not provided [RCV001569022]|not specified [RCV003987471] Chr18:31082969 [GRCh38]
Chr18:28662935 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000227169]|Cardiomyopathy [RCV001189719] Chr18:31101938 [GRCh38]
Chr18:28681901 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.360A>G (p.Leu120=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001078531]|Cardiomyopathy [RCV001185256]|Cardiovascular phenotype [RCV002450705]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998887]|not provided [RCV000842757] Chr18:31091142 [GRCh38]
Chr18:28671105 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000239125]|Arrhythmogenic right ventricular dysplasia 11 [RCV001302059]|Cardiomyopathy [RCV003532070]|Cardiovascular phenotype [RCV002411107]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998944]|not provided [RCV000589114] Chr18:31082934 [GRCh38]
Chr18:28662900 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.669A>G (p.Pro223=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001491321]|Cardiomyopathy [RCV000769497]|Cardiovascular phenotype [RCV000621583]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002658] Chr18:31087775 [GRCh38]
Chr18:28667738 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001868115]|Cardiomyopathy [RCV000772663]|Cardiovascular phenotype [RCV000621658]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002705]|not provided [RCV005051801] Chr18:31069058 [GRCh38]
Chr18:28649024 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2126-7C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000560894]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999351] Chr18:31070857 [GRCh38]
Chr18:28650823 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001860251]|not specified [RCV000601029] Chr18:31071671 [GRCh38]
Chr18:28651637 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.10:g.(?_31092081)_(31101991_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000551783] Chr18:31092081..31101991 [GRCh38]
Chr18:28672044..28681954 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2202G>A (p.Gln734=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001464850]|Cardiomyopathy [RCV001180366]|Cardiovascular phenotype [RCV000243942]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995722]|not provided [RCV001705397] Chr18:31070774 [GRCh38]
Chr18:28650740 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.697A>G (p.Ile233Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631099]|Cardiovascular phenotype [RCV000248776] Chr18:31087747 [GRCh38]
Chr18:28667710 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.236T>G (p.Val79Gly) single nucleotide variant Cardiovascular phenotype [RCV000251340]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999012] Chr18:31092219 [GRCh38]
Chr18:28672182 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.870A>G (p.Pro290=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000625300]|Cardiomyopathy [RCV001184484]|Cardiovascular phenotype [RCV000251476]|not provided [RCV001701837]|not specified [RCV000438129] Chr18:31086648 [GRCh38]
Chr18:28666611 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000869448]|Cardiomyopathy [RCV001190243]|Cardiovascular phenotype [RCV000241862]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995718] Chr18:31070732 [GRCh38]
Chr18:28650698 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001854971]|Cardiomyopathy [RCV001184258]|Cardiovascular phenotype [RCV000254167]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999032]|not provided [RCV000786114]|not specified [RCV003235164] Chr18:31092134 [GRCh38]
Chr18:28672097 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1986T>G (p.Thr662=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001493735] Chr18:31071744 [GRCh38]
Chr18:28651710 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1521-1G>A single nucleotide variant Cardiovascular phenotype [RCV000246983] Chr18:31079990 [GRCh38]
Chr18:28659956 [GRCh37]
Chr18:18q12.1		 likely pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000463565]|Cardiomyopathy [RCV001188884]|Cardiovascular phenotype [RCV002446496]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998998]|not provided [RCV001727660]|not specified [RCV000247336] Chr18:31080347 [GRCh38]
Chr18:28660313 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.2251-49T>C single nucleotide variant not provided [RCV000830186]|not specified [RCV000252483] Chr18:31069200 [GRCh38]
Chr18:28649166 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644639]|Cardiomyopathy [RCV001181618]|Cardiovascular phenotype [RCV000252744] Chr18:31087690 [GRCh38]
Chr18:28667653 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000466511]|Cardiomyopathy [RCV001525015]|Cardiovascular phenotype [RCV000253183] Chr18:31069049 [GRCh38]
Chr18:28649015 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1237G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000282595] Chr18:31066778 [GRCh38]
Chr18:28646744 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*185A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000282953] Chr18:31067830 [GRCh38]
Chr18:28647796 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-424G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000268072] Chr18:31102395 [GRCh38]
Chr18:28682358 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1017C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000303878] Chr18:31066998 [GRCh38]
Chr18:28646964 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1604A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000288865] Chr18:31066411 [GRCh38]
Chr18:28646377 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.-365T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000297772] Chr18:31102336 [GRCh38]
Chr18:28682299 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*579T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000279468]|not provided [RCV004709822] Chr18:31067436 [GRCh38]
Chr18:28647402 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.*1784G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000271051] Chr18:31066231 [GRCh38]
Chr18:28646197 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*46A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000343990]|not provided [RCV001636921] Chr18:31067969 [GRCh38]
Chr18:28647935 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.*864G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000273262] Chr18:31067151 [GRCh38]
Chr18:28647117 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*764dup duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000276669] Chr18:31067250..31067251 [GRCh38]
Chr18:28647216..28647217 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000259769]|Cardiovascular phenotype [RCV002429285]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995850] Chr18:31070778 [GRCh38]
Chr18:28650744 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000527217]|Cardiomyopathy [RCV001179550]|Cardiovascular phenotype [RCV000618345]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995849]|not specified [RCV000615691] Chr18:31068972 [GRCh38]
Chr18:28648938 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.*784G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000364121] Chr18:31067231 [GRCh38]
Chr18:28647197 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*705G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000319134] Chr18:31067310 [GRCh38]
Chr18:28647276 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000554581]|Cardiomyopathy [RCV001171302]|Cardiovascular phenotype [RCV002402047]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995851]|not provided [RCV001718682]|not specified [RCV000606828] Chr18:31074783 [GRCh38]
Chr18:28654749 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.*709CT[3] microsatellite Arrhythmogenic right ventricular cardiomyopathy [RCV000261634] Chr18:31067299..31067300 [GRCh38]
Chr18:28647265..28647266 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1408A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000350317] Chr18:31066607 [GRCh38]
Chr18:28646573 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1704G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000328434] Chr18:31066311 [GRCh38]
Chr18:28646277 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*422C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000379679] Chr18:31067593 [GRCh38]
Chr18:28647559 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*133G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000310139]|not provided [RCV004709823] Chr18:31067882 [GRCh38]
Chr18:28647848 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.*1475G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000332085] Chr18:31066540 [GRCh38]
Chr18:28646506 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001078956]|Cardiomyopathy [RCV001183489]|Cardiovascular phenotype [RCV002411221]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995852]|not provided [RCV000521159]|not specified [RCV001000776] Chr18:31086664 [GRCh38]
Chr18:28666627 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.*1628T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000380962] Chr18:31066387 [GRCh38]
Chr18:28646353 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*764del deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000334094] Chr18:31067251 [GRCh38]
Chr18:28647217 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2367A>T (p.Gly789=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000277488]|Cardiovascular phenotype [RCV004021725] Chr18:31069035 [GRCh38]
Chr18:28649001 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.*1104G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000342982] Chr18:31066911 [GRCh38]
Chr18:28646877 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1158A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000398657] Chr18:31066857 [GRCh38]
Chr18:28646823 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*764T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000386614] Chr18:31067251 [GRCh38]
Chr18:28647217 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1096T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000407431] Chr18:31066919 [GRCh38]
Chr18:28646885 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.*534A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000341536] Chr18:31067481 [GRCh38]
Chr18:28647447 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*137A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000390027]|not provided [RCV001551310] Chr18:31067878 [GRCh38]
Chr18:28647844 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000590921]|Arrhythmogenic right ventricular dysplasia 11 [RCV000819785]|Cardiovascular phenotype [RCV002341512]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002452]|not provided [RCV005250082] Chr18:31089579 [GRCh38]
Chr18:28669542 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-392G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000303427] Chr18:31102363 [GRCh38]
Chr18:28682326 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-20A>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000400243] Chr18:31101991 [GRCh38]
Chr18:28681954 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-42C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000292402] Chr18:31102013 [GRCh38]
Chr18:28681976 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1444A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000293072] Chr18:31066571 [GRCh38]
Chr18:28646537 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1126G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000304527] Chr18:31066889 [GRCh38]
Chr18:28646855 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*934C>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000365415] Chr18:31067081 [GRCh38]
Chr18:28647047 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*833G>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000307160] Chr18:31067182 [GRCh38]
Chr18:28647148 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1183G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000335308] Chr18:31066832 [GRCh38]
Chr18:28646798 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-132C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000351939] Chr18:31102103 [GRCh38]
Chr18:28682066 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1453C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000389007] Chr18:31066562 [GRCh38]
Chr18:28646528 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*640G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000371438] Chr18:31067375 [GRCh38]
Chr18:28647341 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2205G>T (p.Gln735His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000354598] Chr18:31070771 [GRCh38]
Chr18:28650737 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-381G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000390931] Chr18:31102352 [GRCh38]
Chr18:28682315 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-155G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000390942] Chr18:31102126 [GRCh38]
Chr18:28682089 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*166C>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000340397]|Arrhythmogenic right ventricular dysplasia 11 [RCV002480160] Chr18:31067849 [GRCh38]
Chr18:28647815 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1401C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000374699] Chr18:31066614 [GRCh38]
Chr18:28646580 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-366A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000357352] Chr18:31102337 [GRCh38]
Chr18:28682300 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.12C>A (p.Ala4=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631151]|Cardiomyopathy [RCV003532201]|Cardiovascular phenotype [RCV000620697] Chr18:31101960 [GRCh38]
Chr18:28681923 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.120C>A (p.Pro40=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001494764]|Cardiovascular phenotype [RCV002358713]|not specified [RCV000605476] Chr18:31093593 [GRCh38]
Chr18:28673556 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.*1923C>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000358869] Chr18:31066092 [GRCh38]
Chr18:28646058 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001860391]|Cardiomyopathy [RCV001190258]|Cardiovascular phenotype [RCV000621507]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002691] Chr18:31086646 [GRCh38]
Chr18:28666609 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000705907]|Cardiomyopathy [RCV001185273]|Cardiovascular phenotype [RCV000621760]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002688] Chr18:31071671 [GRCh38]
Chr18:28651637 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000699650]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002471]|not provided [RCV000598790] Chr18:31101937..31101938 [GRCh38]
Chr18:28681900..28681901 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1875G>C (p.Leu625=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002065137]|Cardiovascular phenotype [RCV002413669]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002449]|not specified [RCV000588089] Chr18:31074696 [GRCh38]
Chr18:28654662 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001299228]|Cardiomyopathy [RCV003532182]|Cardiovascular phenotype [RCV002395511]|not specified [RCV000588208] Chr18:31080147 [GRCh38]
Chr18:28660113 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.77del (p.Ile26fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001854125]|not provided [RCV000598883] Chr18:31093636 [GRCh38]
Chr18:28673599 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001345443]|Cardiovascular phenotype [RCV004024687]|not provided [RCV000589965] Chr18:31087798 [GRCh38]
Chr18:28667761 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.475-5T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002528817]|Cardiovascular phenotype [RCV000619768] Chr18:31089599 [GRCh38]
Chr18:28669562 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000695038]|Cardiomyopathy [RCV001186937]|Cardiovascular phenotype [RCV002446633]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995919]|not specified [RCV000414262] Chr18:31069115 [GRCh38]
Chr18:28649081 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001855862]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807123]|not provided [RCV001585688] Chr18:31082378 [GRCh38]
Chr18:28662344 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002544025]|not provided [RCV001760584] Chr18:31074840 [GRCh38]
Chr18:28654806 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000414967]|Arrhythmogenic right ventricular dysplasia 11 [RCV001198264]|Cardiomyopathy [RCV003532097]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806288] Chr18:31074854 [GRCh38]
Chr18:28654820 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000534943]|Cardiomyopathy [RCV003532175] Chr18:31086716 [GRCh38]
Chr18:28666679 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000536920]|Cardiomyopathy [RCV001190486]|Cardiovascular phenotype [RCV004992343]|DSC2-related disorder [RCV003983118] Chr18:31070850 [GRCh38]
Chr18:28650816 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000723308] Chr18:31071655 [GRCh38]
Chr18:28651621 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.608G>A (p.Arg203His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001209186]|Cardiomyopathy [RCV001183814]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806287]|not provided [RCV000413449] Chr18:31089461 [GRCh38]
Chr18:28669424 [GRCh37]
Chr18:18q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000549758]|Cardiomyopathy [RCV000771865]|Cardiovascular phenotype [RCV002448725]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999353]|not provided [RCV001546834]|not specified [RCV001805180] Chr18:31069116 [GRCh38]
Chr18:28649082 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000795744]|Cardiomyopathy [RCV001191558]|Cardiovascular phenotype [RCV002450955]|not specified [RCV000414169] Chr18:31069021 [GRCh38]
Chr18:28648987 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly) single nucleotide variant Cardiomyopathy [RCV001177684]|Cardiovascular phenotype [RCV002379396]|not provided [RCV000430882] Chr18:31087707 [GRCh38]
Chr18:28667670 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2251-13G>A single nucleotide variant Cardiomyopathy [RCV001188688]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000521]|not provided [RCV001704504] Chr18:31069164 [GRCh38]
Chr18:28649130 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.489G>A (p.Thr163=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000808310]|Cardiomyopathy [RCV001188689]|Cardiovascular phenotype [RCV002339010]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000348]|not specified [RCV000444999] Chr18:31089580 [GRCh38]
Chr18:28669543 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.-25C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002506027]|not specified [RCV000438216] Chr18:31101996 [GRCh38]
Chr18:28681959 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2157T>C (p.Ser719=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001471936]|Cardiovascular phenotype [RCV002429354]|not specified [RCV000438247] Chr18:31070819 [GRCh38]
Chr18:28650785 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000869892]|Cardiomyopathy [RCV001170829]|Cardiovascular phenotype [RCV002446681]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000357]|not specified [RCV000421285] Chr18:31069143 [GRCh38]
Chr18:28649109 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.776-13T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517197]|not specified [RCV000428339] Chr18:31086755 [GRCh38]
Chr18:28666718 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.70-20G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002061378]|not provided [RCV001535423]|not specified [RCV000442832] Chr18:31093663 [GRCh38]
Chr18:28673626 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1323T>C (p.Ala441=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002521552]|Cardiomyopathy [RCV001188441]|not specified [RCV000428787] Chr18:31080293 [GRCh38]
Chr18:28660259 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-16T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002521641]|not specified [RCV000442954] Chr18:31068228 [GRCh38]
Chr18:28648194 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001469871]|not specified [RCV000443484] Chr18:31071792 [GRCh38]
Chr18:28651758 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2163G>A (p.Thr721=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002062348]|Cardiomyopathy [RCV000771984]|Cardiovascular phenotype [RCV002429379]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003996053]|not specified [RCV000419882] Chr18:31070813 [GRCh38]
Chr18:28650779 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.70-18T>C single nucleotide variant not specified [RCV000436429] Chr18:31093661 [GRCh38]
Chr18:28673624 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.-31C>T single nucleotide variant not specified [RCV000433495] Chr18:31102002 [GRCh38]
Chr18:28681965 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-118A>G single nucleotide variant not specified [RCV000440666] Chr18:31068330 [GRCh38]
Chr18:28648296 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1077+11G>A single nucleotide variant not specified [RCV000420260] Chr18:31082915 [GRCh38]
Chr18:28662881 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2251-20G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002062488]|not specified [RCV000433894] Chr18:31069171 [GRCh38]
Chr18:28649137 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001061873]|Cardiomyopathy [RCV001184488]|Cardiovascular phenotype [RCV000622254]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000471]|not provided [RCV000444582] Chr18:31082984 [GRCh38]
Chr18:28662950 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.-22C>T single nucleotide variant not specified [RCV000427049] Chr18:31101993 [GRCh38]
Chr18:28681956 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.882dup (p.Phe295fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV000462858] Chr18:31086635..31086636 [GRCh38]
Chr18:28666598..28666599 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000474033]|Cardiovascular phenotype [RCV004992238]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001862] Chr18:31068038 [GRCh38]
Chr18:28648004 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.429G>C (p.Ser143=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000470386] Chr18:31091073 [GRCh38]
Chr18:28671036 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000466927]|Cardiomyopathy [RCV001183506]|Cardiovascular phenotype [RCV002418474]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002176]|not provided [RCV002244946] Chr18:31071749 [GRCh38]
Chr18:28651715 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000469856]|Cardiomyopathy [RCV001525033]|Cardiovascular phenotype [RCV002411494]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001866]|not provided [RCV002223214]|not specified [RCV002298603] Chr18:31082946 [GRCh38]
Chr18:28662912 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.473del (p.Gln158fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005056057]|not provided [RCV000482916] Chr18:31091029 [GRCh38]
Chr18:28670992 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.750T>C (p.Phe250=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001429982]|not provided [RCV004704015] Chr18:31087694 [GRCh38]
Chr18:28667657 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.772G>A (p.Val258Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000475556]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001867] Chr18:31087672 [GRCh38]
Chr18:28667635 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000531195]|Cardiomyopathy [RCV001177922]|Cardiovascular phenotype [RCV003298543]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002257]|not provided [RCV000481056] Chr18:31071692 [GRCh38]
Chr18:28651658 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000467720]|Cardiomyopathy [RCV000772020]|Cardiovascular phenotype [RCV000619775]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001864]|not provided [RCV000481832]|not specified [RCV004767274] Chr18:31074805 [GRCh38]
Chr18:28654771 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.943-1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000601124]|Cardiomyopathy [RCV001184323]|Cardiovascular phenotype [RCV000617404]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806355]|not provided [RCV000484445] Chr18:31083061 [GRCh38]
Chr18:28663027 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2250+2T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001379667]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002294]|not provided [RCV000484544] Chr18:31070724 [GRCh38]
Chr18:28650690 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1857A>G (p.Val619=) single nucleotide variant Cardiomyopathy [RCV001183882] Chr18:31074714 [GRCh38]
Chr18:28654680 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000461084]|Cardiovascular phenotype [RCV002393145]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001863]|not specified [RCV001797728] Chr18:31080180 [GRCh38]
Chr18:28660146 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2509-9C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000468553] Chr18:31068221 [GRCh38]
Chr18:28648187 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000476262]|Cardiovascular phenotype [RCV003380578] Chr18:31082309 [GRCh38]
Chr18:28662275 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644636]|Cardiomyopathy [RCV001171300]|Cardiovascular phenotype [RCV002420240]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003400]|not provided [RCV000482040] Chr18:31070785 [GRCh38]
Chr18:28650751 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000457866]|Cardiomyopathy [RCV000776323]|Cardiovascular phenotype [RCV002436449]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001869]|not provided [RCV004760515]|not specified [RCV002282158] Chr18:31092169 [GRCh38]
Chr18:28672132 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000476734]|Cardiomyopathy [RCV001181378]|Cardiovascular phenotype [RCV002393146]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001865] Chr18:31093571 [GRCh38]
Chr18:28673534 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.174T>C (p.Phe58=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000473124]|Cardiomyopathy [RCV000777815]|Cardiovascular phenotype [RCV002402354]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004806346]|not provided [RCV001704578] Chr18:31092281 [GRCh38]
Chr18:28672244 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.101dup (p.Asn34fs) duplication not provided [RCV000478985] Chr18:31093611..31093612 [GRCh38]
Chr18:28673574..28673575 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000458421]|Cardiovascular phenotype [RCV002383893]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002178]|not provided [RCV001557088] Chr18:31087700 [GRCh38]
Chr18:28667663 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.135C>T (p.Ala45=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001086446]|Cardiomyopathy [RCV001178577]|Cardiovascular phenotype [RCV002383892]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002177]|not provided [RCV000586201] Chr18:31093578 [GRCh38]
Chr18:28673541 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000470060]|Cardiomyopathy [RCV001805076]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001868] Chr18:31071820 [GRCh38]
Chr18:28651786 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1520+8C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000473886]|Cardiomyopathy [RCV000770538]|DSC2-related disorder [RCV003932756]|not provided [RCV001702661]|not specified [RCV000608328] Chr18:31080088 [GRCh38]
Chr18:28660054 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1635_1636dup (p.Asn546fs) microsatellite not provided [RCV000480188] Chr18:31079873..31079874 [GRCh38]
Chr18:28659839..28659840 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000704414]|Cardiomyopathy [RCV001188643]|Cardiovascular phenotype [RCV002431433]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003436]|Hypertrophic cardiomyopathy [RCV000497924]|not provided [RCV000520921] Chr18:31068118 [GRCh38]
Chr18:28648084 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1 copy number loss See cases [RCV000510691] Chr18:20069932..36887326 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000538463]|Cardiomyopathy [RCV001188965]|not provided [RCV000497593] Chr18:31069033 [GRCh38]
Chr18:28648999 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001233237]|Cardiomyopathy [RCV000772025]|Cardiovascular phenotype [RCV000622048]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003495]|not provided [RCV000497659] Chr18:31082420 [GRCh38]
Chr18:28662386 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001057379]|Cardiovascular phenotype [RCV002379097]|Dilated cardiomyopathy 1S [RCV000491345]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003995744] Chr18:31080309 [GRCh38]
Chr18:28660275 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000806197]|Cardiomyopathy [RCV001188962]|Cardiovascular phenotype [RCV004023318]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003489]|not provided [RCV000494438] Chr18:31089468 [GRCh38]
Chr18:28669431 [GRCh37]
Chr18:18q12.1		 pathogenic|likely benign|uncertain significance
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 9 [RCV000491245] Chr18:31068140 [GRCh38]
Chr18:28648106 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001041300]|Cardiomyopathy [RCV000776315]|Cardiovascular phenotype [RCV002431440]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003485]|not provided [RCV000493412] Chr18:31070838 [GRCh38]
Chr18:28650804 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.322A>G (p.Lys108Glu) single nucleotide variant Cardiovascular phenotype [RCV003297440] Chr18:31092133 [GRCh38]
Chr18:28672096 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644627]|Cardiovascular phenotype [RCV002422332]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004054] Chr18:31071734 [GRCh38]
Chr18:28651700 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644628]|Cardiomyopathy [RCV001185026]|Cardiovascular phenotype [RCV002449034]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004055]|not provided [RCV003325506] Chr18:31069144 [GRCh38]
Chr18:28649110 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644629]|Cardiomyopathy [RCV000773296]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807065]|not provided [RCV001358041] Chr18:31089521 [GRCh38]
Chr18:28669484 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.22G>A (p.Gly8Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644630] Chr18:31101950 [GRCh38]
Chr18:28681913 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644637]|Cardiomyopathy [RCV001187678]|Cardiovascular phenotype [RCV004025668]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004058]|not provided [RCV001771886] Chr18:31093598 [GRCh38]
Chr18:28673561 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644638]|Cardiomyopathy [RCV001185027]|Cardiovascular phenotype [RCV002449035]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004059]|not provided [RCV001547044] Chr18:31069138 [GRCh38]
Chr18:28649104 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000644645]|Cardiomyopathy [RCV001187679] Chr18:31089445..31089492 [GRCh38]
Chr18:28669408..28669455 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.927T>C (p.Ser309=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644652]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004063] Chr18:31086591 [GRCh38]
Chr18:28666554 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.525T>C (p.Gly175=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644653]|Cardiomyopathy [RCV000773297] Chr18:31089544 [GRCh38]
Chr18:28669507 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.9:g.(?_28673502)_(28673626_?)dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV000644660] Chr18:31093539..31093663 [GRCh38]
Chr18:28673502..28673626 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NC_000018.10:g.(?_31070706)_(31070870_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000644661] Chr18:31070706..31070870 [GRCh38]
Chr18:28650672..28650836 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644632]|Cardiovascular phenotype [RCV000617760]|not provided [RCV000786115] Chr18:31082398 [GRCh38]
Chr18:28662364 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000606513] Chr18:31080245 [GRCh38]
Chr18:28660211 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1901G>T (p.Arg634Leu) single nucleotide variant Cardiovascular phenotype [RCV000617977] Chr18:31071829 [GRCh38]
Chr18:28651795 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001488832]|Cardiovascular phenotype [RCV002413557]|DSC2-related disorder [RCV003900191]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999348] Chr18:31074696 [GRCh38]
Chr18:28654662 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000590953]|Arrhythmogenic right ventricular dysplasia 11 [RCV000693817]|Cardiomyopathy [RCV001179075]|Cardiovascular phenotype [RCV002358651]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002450]|not provided [RCV001541214] Chr18:31089474 [GRCh38]
Chr18:28669437 [GRCh37]
Chr18:18q12.1		 pathogenic|drug response|uncertain significance
NM_024422.6(DSC2):c.2250+3A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000537260]|not specified [RCV000600466] Chr18:31070723 [GRCh38]
Chr18:28650689 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.30G>T (p.Trp10Cys) single nucleotide variant Cardiomyopathy [RCV001190259]|Cardiovascular phenotype [RCV000621556] Chr18:31101942 [GRCh38]
Chr18:28681905 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1078-6T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000539390] Chr18:31082429 [GRCh38]
Chr18:28662395 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1028_1030del (p.Ile343del) deletion not specified [RCV000601555] Chr18:31082973..31082975 [GRCh38]
Chr18:28662939..28662941 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000625297]|Cardiomyopathy [RCV001181569]|Cardiovascular phenotype [RCV000620206]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002687]|not provided [RCV001675942]|not specified [RCV001701403] Chr18:31071626 [GRCh38]
Chr18:28651592 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000604239]|Cardiomyopathy [RCV001181570]|Cardiovascular phenotype [RCV000618344]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002635] Chr18:31069074 [GRCh38]
Chr18:28649040 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.861_862delinsCT (p.Gln287_Val288delinsHisLeu) indel Cardiovascular phenotype [RCV000618138] Chr18:31086656..31086657 [GRCh38]
Chr18:28666619..28666620 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val) inversion Arrhythmogenic right ventricular dysplasia 11 [RCV000644640] Chr18:31069017..31069018 [GRCh38]
Chr18:28648983..28648984 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644641]|Cardiomyopathy [RCV001805776]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004060]|not provided [RCV001092831] Chr18:31068130 [GRCh38]
Chr18:28648096 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644642] Chr18:31074725 [GRCh38]
Chr18:28654691 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644643] Chr18:31068965 [GRCh38]
Chr18:28648931 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644647] Chr18:31092287 [GRCh38]
Chr18:28672250 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1638T>C (p.Asn546=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644649]|Cardiomyopathy [RCV001187680]|Cardiovascular phenotype [RCV002397244]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004061]|not provided [RCV001637112]|not specified [RCV000780209] Chr18:31079872 [GRCh38]
Chr18:28659838 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.585G>A (p.Leu195=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644655] Chr18:31089484 [GRCh38]
Chr18:28669447 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2125+9T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644656] Chr18:31071596 [GRCh38]
Chr18:28651562 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644658]|Cardiomyopathy [RCV001185028]|Cardiovascular phenotype [RCV002458082]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004064]|not provided [RCV001566474]|not specified [RCV000781328] Chr18:31069023 [GRCh38]
Chr18:28648989 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.72C>A (p.Ile24=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644659]|Cardiomyopathy [RCV001187681]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004065] Chr18:31093641 [GRCh38]
Chr18:28673604 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV002529804]|not provided [RCV000627125] Chr18:31071614..31071618 [GRCh38]
Chr18:28651580..28651584 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001860367]|Cardiomyopathy [RCV001185003]|Cardiovascular phenotype [RCV000617175]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002651] Chr18:31080181 [GRCh38]
Chr18:28660147 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.285C>T (p.Thr95=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001469227]|Cardiovascular phenotype [RCV002438584]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002550]|not specified [RCV000615286] Chr18:31092170 [GRCh38]
Chr18:28672133 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001218357]|Cardiovascular phenotype [RCV000617607] Chr18:31082930 [GRCh38]
Chr18:28662896 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1663+4A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001047699]|Cardiomyopathy [RCV001185004]|Cardiovascular phenotype [RCV000618122]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002696]|not provided [RCV001249442] Chr18:31079843 [GRCh38]
Chr18:28659809 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance|not provided
NM_024422.6(DSC2):c.1634ATA[1] (p.Asn546del) microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV005091771]|Cardiovascular phenotype [RCV000618598] Chr18:31079871..31079873 [GRCh38]
Chr18:28659837..28659839 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001300606]|Cardiomyopathy [RCV003532186]|Cardiovascular phenotype [RCV004992381]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002478]|not specified [RCV000607595] Chr18:31086719 [GRCh38]
Chr18:28666682 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2151G>C (p.Gly717=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002065216]|Cardiovascular phenotype [RCV002431778]|not specified [RCV000610951] Chr18:31070825 [GRCh38]
Chr18:28650791 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.2442G>A (p.Thr814=) single nucleotide variant Cardiomyopathy [RCV001191390]|Cardiovascular phenotype [RCV002456351]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002528]|not specified [RCV000613773] Chr18:31068960 [GRCh38]
Chr18:28648926 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1029T>C (p.Ile343=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000527795] Chr18:31082974 [GRCh38]
Chr18:28662940 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000528183]|Cardiovascular phenotype [RCV000621947] Chr18:31080164 [GRCh38]
Chr18:28660130 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000529220]|Cardiovascular phenotype [RCV004024056]|not provided [RCV005250074] Chr18:31089450 [GRCh38]
Chr18:28669413 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000529398] Chr18:31079910 [GRCh38]
Chr18:28659876 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.355-3G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000532219]|Cardiovascular phenotype [RCV002341375] Chr18:31091150 [GRCh38]
Chr18:28671113 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000626328] Chr18:31087695 [GRCh38]
Chr18:28667658 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644631]|Cardiomyopathy [RCV001188636]|Cardiovascular phenotype [RCV002386076]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004056]|not provided [RCV000996665] Chr18:31093577 [GRCh38]
Chr18:28673540 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644633]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004057] Chr18:31071823 [GRCh38]
Chr18:28651789 [GRCh37]
Chr18:18q12.1		 drug response|uncertain significance
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644634] Chr18:31079958 [GRCh38]
Chr18:28659924 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001855263]|Cardiovascular phenotype [RCV000620914]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002660]|not provided [RCV000786113] Chr18:31092130 [GRCh38]
Chr18:28672093 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2472G>A (p.Ser824=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644648]|Cardiomyopathy [RCV001524940]|Cardiovascular phenotype [RCV002449036]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807066] Chr18:31068930 [GRCh38]
Chr18:28648896 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1888+7A>G single nucleotide variant not provided [RCV000644650] Chr18:31074676 [GRCh38]
Chr18:28654642 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.951C>T (p.Asp317=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644651]|Cardiomyopathy [RCV003532223]|Cardiovascular phenotype [RCV002369706]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004062] Chr18:31083052 [GRCh38]
Chr18:28663018 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630+8C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000644654] Chr18:31089431 [GRCh38]
Chr18:28669394 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.9:g.(?_28654629)_(28673626_?)dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV000644662] Chr18:28654629..28673626 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2092C>T (p.Leu698Phe) single nucleotide variant Cardiovascular phenotype [RCV004025277] Chr18:31071638 [GRCh38]
Chr18:28651604 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1077+9A>T single nucleotide variant not specified [RCV000601045] Chr18:31082917 [GRCh38]
Chr18:28662883 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000697735]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999671] Chr18:31071683 [GRCh38]
Chr18:28651649 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2248G>A (p.Val750Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000686806] Chr18:31070728 [GRCh38]
Chr18:28650694 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2648T>G (p.Phe883Cys) single nucleotide variant Left ventricular hypertrophy [RCV000678702] Chr18:31068073 [GRCh38]
Chr18:28648039 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1468A>G (p.Ser490Gly) single nucleotide variant Cardiomyopathy [RCV001804251] Chr18:31080148 [GRCh38]
Chr18:28660114 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:26693886-29208276)x3 copy number gain not provided [RCV000684031] Chr18:26693886..29208276 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001869530]|Cardiomyopathy [RCV001804689]|Cardiovascular phenotype [RCV004996014]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009108] Chr18:31087797 [GRCh38]
Chr18:28667760 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000702892]|Cardiomyopathy [RCV001183562]|Cardiovascular phenotype [RCV002406633]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999736]|not provided [RCV004723108]|not specified [RCV005056454] Chr18:31074727 [GRCh38]
Chr18:28654693 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000698990]|Cardiomyopathy [RCV001187933]|Cardiovascular phenotype [RCV002458272]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807103] Chr18:31069036 [GRCh38]
Chr18:28649002 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.739A>G (p.Thr247Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000700885] Chr18:31087705 [GRCh38]
Chr18:28667668 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000686529]|Cardiomyopathy [RCV001191645]|Cardiovascular phenotype [RCV002343434]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004249] Chr18:31091139 [GRCh38]
Chr18:28671102 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000707151]|Cardiomyopathy [RCV001188195]|Cardiovascular phenotype [RCV004026744]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999784] Chr18:31092160 [GRCh38]
Chr18:28672123 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000694659] Chr18:31082975 [GRCh38]
Chr18:28662941 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000690201]|Cardiomyopathy [RCV003532232]|not provided [RCV001756175] Chr18:31086638 [GRCh38]
Chr18:28666601 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000688459] Chr18:31070776 [GRCh38]
Chr18:28650742 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000695803]|Cardiomyopathy [RCV003532241]|Cardiovascular phenotype [RCV004026351]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999643] Chr18:31074874 [GRCh38]
Chr18:28654840 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000696032]|Cardiomyopathy [RCV003532243]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999649] Chr18:31069000 [GRCh38]
Chr18:28648966 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000694050]|Cardiovascular phenotype [RCV003163175] Chr18:31074790 [GRCh38]
Chr18:28654756 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000696227]|Cardiomyopathy [RCV001179597]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999651] Chr18:31070770 [GRCh38]
Chr18:28650736 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.596G>A (p.Arg199His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000696285]|Cardiomyopathy [RCV001186674]|Cardiovascular phenotype [RCV002352160]|DSC2-related disorder [RCV004723090]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999654] Chr18:31089473 [GRCh38]
Chr18:28669436 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000698074]|Cardiomyopathy [RCV001183318] Chr18:31068939 [GRCh38]
Chr18:28648905 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_024422.6(DSC2):c.488C>T (p.Thr163Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000691723]|Cardiomyopathy [RCV001176536]|Cardiovascular phenotype [RCV002334296]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999566] Chr18:31089581 [GRCh38]
Chr18:28669544 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.354+1G>T single nucleotide variant not provided [RCV001539923] Chr18:31092100 [GRCh38]
Chr18:28672063 [GRCh37]
Chr18:18q12.1		 likely pathogenic
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631202]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808104]|not provided [RCV001529301] Chr18:31080295 [GRCh38]
Chr18:28660261 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.936C>T (p.Asp312=) single nucleotide variant not provided [RCV000896415]|not specified [RCV002282399] Chr18:31086582 [GRCh38]
Chr18:28666545 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+11_942+12insTTA insertion not specified [RCV001699880] Chr18:31086564..31086565 [GRCh38]
Chr18:28666527..28666528 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1888+216CA[17] microsatellite not provided [RCV001611176] Chr18:31074422..31074433 [GRCh38]
Chr18:28654388..28654399 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1888+216CA[21] microsatellite not provided [RCV001680462] Chr18:31074422..31074425 [GRCh38]
Chr18:28654388..28654391 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.942+11_942+12insT insertion not provided [RCV001612148] Chr18:31086564..31086565 [GRCh38]
Chr18:28666527..28666528 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2125T>G (p.Cys709Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001043269] Chr18:31071605 [GRCh38]
Chr18:28651571 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.10:g.(?_31068005)_(31070860_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001031977] Chr18:28647971..28650826 [GRCh37]
Chr18:18q12.1		 likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.1664-1G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001067340]|Cardiomyopathy [RCV001525560]|not provided [RCV002286808] Chr18:31074908 [GRCh38]
Chr18:28654874 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1977T>C (p.Ser659=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000926646]|Cardiovascular phenotype [RCV002416155] Chr18:31071753 [GRCh38]
Chr18:28651719 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1990T>C (p.Leu664=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001500577]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003202] Chr18:31071740 [GRCh38]
Chr18:28651706 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2502T>C (p.Leu834=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001486573]|Cardiovascular phenotype [RCV004027685] Chr18:31068900 [GRCh38]
Chr18:28648866 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2442G>C (p.Thr814=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001462244]|Cardiomyopathy [RCV001187449] Chr18:31068960 [GRCh38]
Chr18:28648926 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.70-7T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000868170]|Cardiomyopathy [RCV001185515] Chr18:31093650 [GRCh38]
Chr18:28673613 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.865C>G (p.Pro289Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001049465] Chr18:31086653 [GRCh38]
Chr18:28666616 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001061623]|Cardiomyopathy [RCV001177493]|Cardiovascular phenotype [RCV004030429]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000121]|not provided [RCV004773280] Chr18:31074731 [GRCh38]
Chr18:28654697 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001071571]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000203]|not specified [RCV001553573] Chr18:31074877 [GRCh38]
Chr18:28654843 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2110A>C (p.Ile704Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001051895] Chr18:31071620 [GRCh38]
Chr18:28651586 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001057663] Chr18:31080244..31080245 [GRCh38]
Chr18:28660210..28660211 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1970G>T (p.Gly657Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001060969] Chr18:31071760 [GRCh38]
Chr18:28651726 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001059771]|Cardiomyopathy [RCV001182981]|Cardiovascular phenotype [RCV002424776]|not provided [RCV001507397]|not specified [RCV000781327] Chr18:31068097 [GRCh38]
Chr18:28648063 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2058C>T (p.Gly686=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517265]|Cardiomyopathy [RCV003532260]|not specified [RCV000781329] Chr18:31071672 [GRCh38]
Chr18:28651638 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.529G>A (p.Gly177Arg) single nucleotide variant Cardiomyopathy [RCV000769498] Chr18:31089540 [GRCh38]
Chr18:28669503 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.474+5C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001365178]|Cardiomyopathy [RCV000769499]|Cardiovascular phenotype [RCV002334430]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999926] Chr18:31091023 [GRCh38]
Chr18:28670986 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.357C>T (p.Val119=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002061043]|Cardiomyopathy [RCV000769500]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999927] Chr18:31091145 [GRCh38]
Chr18:28671108 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000807390]|Cardiomyopathy [RCV000770530]|Cardiovascular phenotype [RCV004027226]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999945]|not specified [RCV001194114] Chr18:31070814 [GRCh38]
Chr18:28650780 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2036A>G (p.His679Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001869070]|Cardiomyopathy [RCV000770531]|Cardiovascular phenotype [RCV002422655]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999946] Chr18:31071694 [GRCh38]
Chr18:28651660 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001364362]|Cardiomyopathy [RCV000770532]|Cardiovascular phenotype [RCV003166036]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999947] Chr18:31071736 [GRCh38]
Chr18:28651702 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002533966]|Cardiomyopathy [RCV000770541]|Cardiovascular phenotype [RCV002370031]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999948] Chr18:31083054 [GRCh38]
Chr18:28663020 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001479002]|Cardiomyopathy [RCV000772970]|Cardiovascular phenotype [RCV002442579]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003999997]|not provided [RCV001547178] Chr18:31069089 [GRCh38]
Chr18:28649055 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003768336]|Cardiomyopathy [RCV000773016] Chr18:31080273 [GRCh38]
Chr18:28660239 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2509-95C>T single nucleotide variant Cardiomyopathy [RCV000773302] Chr18:31068307 [GRCh38]
Chr18:28648273 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.474+4C>A single nucleotide variant Cardiomyopathy [RCV000773339] Chr18:31091024 [GRCh38]
Chr18:28670987 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001856048]|Cardiomyopathy [RCV000773423]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000008] Chr18:31070747 [GRCh38]
Chr18:28650713 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.627T>C (p.Phe209=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001466162]|Cardiomyopathy [RCV000773847]|Cardiovascular phenotype [RCV002360882]|DSC2-related disorder [RCV003892695]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001333]|not provided [RCV001311139]|not specified [RCV001729700] Chr18:31089442 [GRCh38]
Chr18:28669405 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_024422.6(DSC2):c.664A>G (p.Thr222Ala) single nucleotide variant Cardiomyopathy [RCV000774085] Chr18:31087780 [GRCh38]
Chr18:28667743 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000861837]|Cardiomyopathy [RCV000774204]|Cardiovascular phenotype [RCV002397542] Chr18:31074821 [GRCh38]
Chr18:28654787 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2318G>T (p.Gly773Val) single nucleotide variant Cardiomyopathy [RCV000774223] Chr18:31069084 [GRCh38]
Chr18:28649050 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.534T>G (p.Val178=) single nucleotide variant Cardiomyopathy [RCV000774244] Chr18:31089535 [GRCh38]
Chr18:28669498 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr) single nucleotide variant Cardiomyopathy [RCV000774273]|Cardiovascular phenotype [RCV004619408]|not provided [RCV001759454] Chr18:31071695 [GRCh38]
Chr18:28651661 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1131T>G (p.Thr377=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001419252]|Cardiomyopathy [RCV000774280] Chr18:31082370 [GRCh38]
Chr18:28662336 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.740C>A (p.Thr247Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005056525]|Cardiomyopathy [RCV000774394]|Cardiovascular phenotype [RCV004994000]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001395] Chr18:31087704 [GRCh38]
Chr18:28667667 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.393G>T (p.Arg131Ser) single nucleotide variant Cardiomyopathy [RCV000774395] Chr18:31091109 [GRCh38]
Chr18:28671072 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2352C>T (p.Ile784=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001410614]|Cardiomyopathy [RCV000774409] Chr18:31069050 [GRCh38]
Chr18:28649016 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1037A>T (p.Asp346Val) single nucleotide variant Cardiomyopathy [RCV000774419] Chr18:31082966 [GRCh38]
Chr18:28662932 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517264]|Cardiomyopathy [RCV000774443]|Cardiovascular phenotype [RCV002334444] Chr18:31101925 [GRCh38]
Chr18:28681888 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1157C>G (p.Thr386Ser) single nucleotide variant Cardiomyopathy [RCV000774453]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001402] Chr18:31082344 [GRCh38]
Chr18:28662310 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.153A>G (p.Arg51=) single nucleotide variant Cardiomyopathy [RCV000774472]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001405] Chr18:31093560 [GRCh38]
Chr18:28673523 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.906C>T (p.Gly302=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001040502]|Cardiomyopathy [RCV000774548]|Cardiovascular phenotype [RCV003344035]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001412] Chr18:31086612 [GRCh38]
Chr18:28666575 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2020G>A (p.Glu674Lys) single nucleotide variant Cardiomyopathy [RCV000776406] Chr18:31071710 [GRCh38]
Chr18:28651676 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001342638]|Cardiomyopathy [RCV000776433] Chr18:31071823 [GRCh38]
Chr18:28651789 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001294496]|Cardiomyopathy [RCV000776434]|Cardiovascular phenotype [RCV002424773]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001471] Chr18:31069010 [GRCh38]
Chr18:28648976 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1881A>G (p.Ala627=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631161]|Cardiomyopathy [RCV000777882]|Cardiovascular phenotype [RCV002406703]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001510] Chr18:31074690 [GRCh38]
Chr18:28654656 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1347A>G (p.Pro449=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001492662]|Cardiomyopathy [RCV001524599]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003254]|not specified [RCV002282405] Chr18:31080269 [GRCh38]
Chr18:28660235 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122943]|Cardiomyopathy [RCV001805917]|Cardiovascular phenotype [RCV004027764]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003055]|not provided [RCV000869930] Chr18:31080215 [GRCh38]
Chr18:28660181 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1041T>C (p.Asp347=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001456956]|Cardiomyopathy [RCV001524532]|Cardiovascular phenotype [RCV003307781] Chr18:31082962 [GRCh38]
Chr18:28662928 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2031C>T (p.Cys677=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000979368]|Cardiomyopathy [RCV001186426]|Cardiovascular phenotype [RCV004619469]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004391] Chr18:31071699 [GRCh38]
Chr18:28651665 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.978A>G (p.Gln326=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001457839]|Cardiovascular phenotype [RCV003307733] Chr18:31083025 [GRCh38]
Chr18:28662991 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1374T>A (p.Val458=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001476520]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004381] Chr18:31080242 [GRCh38]
Chr18:28660208 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.159C>T (p.Asn53=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001473767]|Cardiomyopathy [RCV003532325] Chr18:31092296 [GRCh38]
Chr18:28672259 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1176T>C (p.Asn392=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000871222]|Cardiomyopathy [RCV001191875]|Cardiovascular phenotype [RCV004619445]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003069] Chr18:31082325 [GRCh38]
Chr18:28662291 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000792744]|Cardiomyopathy [RCV001181585]|Cardiovascular phenotype [RCV002352313]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807174] Chr18:31089452 [GRCh38]
Chr18:28669415 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.355-102A>C single nucleotide variant not provided [RCV000831326] Chr18:31091249 [GRCh38]
Chr18:28671212 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1264-182T>C single nucleotide variant not provided [RCV000831344] Chr18:31080534 [GRCh38]
Chr18:28660500 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.776-121A>G single nucleotide variant not provided [RCV000832271] Chr18:31086863 [GRCh38]
Chr18:28666826 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000804836] Chr18:31071676 [GRCh38]
Chr18:28651642 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2509-22G>A single nucleotide variant not provided [RCV000832934] Chr18:31068234 [GRCh38]
Chr18:28648200 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000794296]|Cardiomyopathy [RCV001189284]|Cardiovascular phenotype [RCV003307431]|not provided [RCV003442074] Chr18:31080160 [GRCh38]
Chr18:28660126 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.155-222C>T single nucleotide variant not provided [RCV000838122] Chr18:31092522 [GRCh38]
Chr18:28672485 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000824184]|Cardiomyopathy [RCV001186338]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004002860] Chr18:31086644 [GRCh38]
Chr18:28666607 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000798249]|Cardiovascular phenotype [RCV002345769] Chr18:31082297 [GRCh38]
Chr18:28662263 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1077+33A>G single nucleotide variant not provided [RCV000830638] Chr18:31082893 [GRCh38]
Chr18:28662859 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1889-36T>C single nucleotide variant not provided [RCV000830639] Chr18:31071877 [GRCh38]
Chr18:28651843 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000802111]|Cardiomyopathy [RCV003532270]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001643]|not provided [RCV003227863] Chr18:31074757 [GRCh38]
Chr18:28654723 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.342G>A (p.Glu114=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001413102]|Cardiomyopathy [RCV001178153]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807220] Chr18:31092113 [GRCh38]
Chr18:28672076 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+92A>G single nucleotide variant not provided [RCV000835239] Chr18:31074591 [GRCh38]
Chr18:28654557 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.775+8C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001401996]|not provided [RCV000840792] Chr18:31087661 [GRCh38]
Chr18:28667624 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2186del (p.Pro729fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV000820651]|Cardiovascular phenotype [RCV003169008] Chr18:31070790 [GRCh38]
Chr18:28650756 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2126-239G>T single nucleotide variant not provided [RCV000839108] Chr18:31071089 [GRCh38]
Chr18:28651055 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2508+305G>T single nucleotide variant not provided [RCV000839109] Chr18:31068589 [GRCh38]
Chr18:28648555 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1620C>A (p.Ile540=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000975581] Chr18:31079890 [GRCh38]
Chr18:28659856 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.355-272del deletion not provided [RCV000827786] Chr18:31091419 [GRCh38]
Chr18:28671382 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.474+45C>G single nucleotide variant not provided [RCV000833665] Chr18:31090983 [GRCh38]
Chr18:28670946 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.70-288T>C single nucleotide variant not provided [RCV000830271] Chr18:31093931 [GRCh38]
Chr18:28673894 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2125+190G>A single nucleotide variant not provided [RCV000835116] Chr18:31071415 [GRCh38]
Chr18:28651381 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-245A>G single nucleotide variant not provided [RCV000835117] Chr18:31068457 [GRCh38]
Chr18:28648423 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1663+89A>G single nucleotide variant not provided [RCV000831345] Chr18:31079758 [GRCh38]
Chr18:28659724 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000798386]|Cardiomyopathy [RCV001186549]|Cardiovascular phenotype [RCV002388458]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001618] Chr18:31080178 [GRCh38]
Chr18:28660144 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000792534]|Cardiomyopathy [RCV001184155]|Cardiovascular phenotype [RCV004027422]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001564] Chr18:31079883 [GRCh38]
Chr18:28659849 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000794878]|Cardiovascular phenotype [RCV002406739] Chr18:31092273 [GRCh38]
Chr18:28672236 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.475-111_475-108del deletion not provided [RCV000831327] Chr18:31089702..31089705 [GRCh38]
Chr18:28669665..28669668 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000802735] Chr18:31071773 [GRCh38]
Chr18:28651739 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.354+274del deletion not provided [RCV000843630] Chr18:31091827 [GRCh38]
Chr18:28671790 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.10:g.31069200A>G single nucleotide variant not provided [RCV000830186] Chr18:28649166 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.70-154G>A single nucleotide variant not provided [RCV000830542] Chr18:31093797 [GRCh38]
Chr18:28673760 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000814739]|Cardiomyopathy [RCV001177877]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001766]|not provided [RCV003329345] Chr18:31079876 [GRCh38]
Chr18:28659842 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+29G>A single nucleotide variant not provided [RCV000833531] Chr18:31101874 [GRCh38]
Chr18:28681837 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000821960]|Cardiovascular phenotype [RCV003169028]|not specified [RCV003330965] Chr18:31080292 [GRCh38]
Chr18:28660258 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1264-293A>G single nucleotide variant not provided [RCV000843631] Chr18:31080645 [GRCh38]
Chr18:28660611 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.475-282G>A single nucleotide variant not provided [RCV000843632] Chr18:31089876 [GRCh38]
Chr18:28669839 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.631-3C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000818761] Chr18:31087816 [GRCh38]
Chr18:28667779 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.943-293_943-276del deletion not provided [RCV000844026] Chr18:31083336..31083353 [GRCh38]
Chr18:28663302..28663319 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1816C>A (p.Pro606Thr) single nucleotide variant not provided [RCV000788644] Chr18:31074755 [GRCh38]
Chr18:28654721 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.631-188C>T single nucleotide variant not provided [RCV000831343] Chr18:31088001 [GRCh38]
Chr18:28667964 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000816504]|Cardiovascular phenotype [RCV004994048]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004001787] Chr18:31071770 [GRCh38]
Chr18:28651736 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.635T>C (p.Ile212Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000823131] Chr18:31087809 [GRCh38]
Chr18:28667772 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.155-3C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000817330]|Cardiomyopathy [RCV001183138] Chr18:31092303 [GRCh38]
Chr18:28672266 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2508+309C>T single nucleotide variant not provided [RCV000839086] Chr18:31068585 [GRCh38]
Chr18:28648551 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1290G>C (p.Gln430His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002535783]|not provided [RCV000788611] Chr18:31080326 [GRCh38]
Chr18:28660292 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1206C>T (p.Gly402=) single nucleotide variant Cardiomyopathy [RCV001180694] Chr18:31082295 [GRCh38]
Chr18:28662261 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1557C>T (p.Thr519=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002067919]|Cardiomyopathy [RCV001181196] Chr18:31079953 [GRCh38]
Chr18:28659919 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2010C>A (p.Asp670Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001045010] Chr18:31071720 [GRCh38]
Chr18:28651686 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.471A>G (p.Gln157=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001043140] Chr18:31091031 [GRCh38]
Chr18:28670994 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1803G>A (p.Glu601=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000891736]|Cardiomyopathy [RCV003532306]|Cardiovascular phenotype [RCV002409142]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004003146] Chr18:31074768 [GRCh38]
Chr18:28654734 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2267T>C (p.Phe756Ser) single nucleotide variant Cardiomyopathy [RCV001182066] Chr18:31069135 [GRCh38]
Chr18:28649101 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_28647971)_(28673616_?)dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001031442] Chr18:28647971..28673616 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.489G>T (p.Thr163=) single nucleotide variant Cardiomyopathy [RCV001182819]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008327] Chr18:31089580 [GRCh38]
Chr18:28669543 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.230G>A (p.Gly77Asp) single nucleotide variant Cardiomyopathy [RCV001176382]|Cardiovascular phenotype [RCV004032995] Chr18:31092225 [GRCh38]
Chr18:28672188 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1759C>A (p.Pro587Thr) single nucleotide variant Cardiomyopathy [RCV001176547] Chr18:31074812 [GRCh38]
Chr18:28654778 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.-6C>T single nucleotide variant Cardiomyopathy [RCV001184871] Chr18:31101977 [GRCh38]
Chr18:28681940 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001875880]|Cardiomyopathy [RCV001178149]|Cardiovascular phenotype [RCV004033017]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006448] Chr18:31079942 [GRCh38]
Chr18:28659908 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.123del (p.Lys42fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV002549286]|not provided [RCV001008294] Chr18:31093590 [GRCh38]
Chr18:28673553 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.374C>A (p.Thr125Asn) single nucleotide variant Cardiomyopathy [RCV001185607] Chr18:31091128 [GRCh38]
Chr18:28671091 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2462A>G (p.Tyr821Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001208632]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807463] Chr18:31068940 [GRCh38]
Chr18:28648906 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.836G>A (p.Arg279His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001238945]|Cardiomyopathy [RCV003532917]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004877] Chr18:31086682 [GRCh38]
Chr18:28666645 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001205396]|Cardiovascular phenotype [RCV002447061]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010643] Chr18:31068946 [GRCh38]
Chr18:28648912 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1263+2dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001223112] Chr18:31082235..31082236 [GRCh38]
Chr18:28662201..28662202 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2588G>A (p.Gly863Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001238183]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004873] Chr18:31068133 [GRCh38]
Chr18:28648099 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.708A>G (p.Glu236=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002559004]|Cardiomyopathy [RCV001181708]|Cardiovascular phenotype [RCV002365859] Chr18:31087736 [GRCh38]
Chr18:28667699 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2374C>T (p.Gln792Ter) single nucleotide variant Cardiomyopathy [RCV001181743]|not provided [RCV005057021] Chr18:31069028 [GRCh38]
Chr18:28648994 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.549G>T (p.Arg183=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001222130]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010743] Chr18:31089520 [GRCh38]
Chr18:28669483 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002068729]|DSC2-related disorder [RCV003936266]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004435] Chr18:31069068 [GRCh38]
Chr18:28649034 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1663G>A (p.Gly555Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093007]|Cardiomyopathy [RCV001176102]|DSC2-related disorder [RCV003413789]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807247] Chr18:31079847 [GRCh38]
Chr18:28659813 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001037223]|Cardiomyopathy [RCV001190885]|Cardiovascular phenotype [RCV002354906]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004436]|not provided [RCV000996662] Chr18:31091105 [GRCh38]
Chr18:28671068 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.-277T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001127073] Chr18:31102248 [GRCh38]
Chr18:28682211 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126572]|Cardiomyopathy [RCV001190421]|Cardiovascular phenotype [RCV002429754]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000220]|See cases [RCV002252315] Chr18:31070814 [GRCh38]
Chr18:28650780 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_024422.6(DSC2):c.2577T>A (p.Tyr859Ter) single nucleotide variant Cardiomyopathy [RCV001176214] Chr18:31068144 [GRCh38]
Chr18:28648110 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+2T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001229863] Chr18:31101901 [GRCh38]
Chr18:28681864 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.13C>G (p.Arg5Gly) single nucleotide variant Cardiomyopathy [RCV001183572] Chr18:31101959 [GRCh38]
Chr18:28681922 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631186]|Cardiomyopathy [RCV001183578] Chr18:31069114 [GRCh38]
Chr18:28649080 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.70-18dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002068163]|Cardiomyopathy [RCV001176316]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006286]|not specified [RCV002282467] Chr18:31093653..31093654 [GRCh38]
Chr18:28673616..28673617 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_024422.6(DSC2):c.*2029A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001128437] Chr18:31065986 [GRCh38]
Chr18:28645952 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1972A>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001128438] Chr18:31066043 [GRCh38]
Chr18:28646009 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001128631]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000253] Chr18:31079849 [GRCh38]
Chr18:28659815 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1877T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122728] Chr18:31066138 [GRCh38]
Chr18:28646104 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.32_34delinsGCA (p.Asn11_Gly12delinsSerArg) indel Cardiomyopathy [RCV001177867]|Cardiovascular phenotype [RCV002320397] Chr18:31101938..31101940 [GRCh38]
Chr18:28681901..28681903 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.*1283A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126466] Chr18:31066732 [GRCh38]
Chr18:28646698 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.*1110A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126467] Chr18:31066905 [GRCh38]
Chr18:28646871 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1541A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001123819] Chr18:31066474 [GRCh38]
Chr18:28646440 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.346C>G (p.Gln116Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126681] Chr18:31092109 [GRCh38]
Chr18:28672072 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631301]|not provided [RCV003234499] Chr18:31086589 [GRCh38]
Chr18:28666552 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.630+240_630+251del deletion not provided [RCV001550125] Chr18:31089188..31089199 [GRCh38]
Chr18:28669151..28669162 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630+256_630+258dup duplication not provided [RCV001582157] Chr18:31089164..31089165 [GRCh38]
Chr18:28669127..28669128 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.154+186T>C single nucleotide variant not provided [RCV001576871] Chr18:31093373 [GRCh38]
Chr18:28673336 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.474+302A>G single nucleotide variant not provided [RCV001550936] Chr18:31090726 [GRCh38]
Chr18:28670689 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+211A>G single nucleotide variant not provided [RCV001566645] Chr18:31082027 [GRCh38]
Chr18:28661993 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.9:g.(?_28647981)_(29648347_?)dup duplication not provided [RCV003107559] Chr18:28647981..29648347 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.10:g.31102565T>C single nucleotide variant not provided [RCV001590466] Chr18:31102565 [GRCh38]
Chr18:28682528 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.354+265dup duplication not provided [RCV001555566] Chr18:31091826..31091827 [GRCh38]
Chr18:28671789..28671790 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630+256dup duplication not provided [RCV001597823] Chr18:31089164..31089165 [GRCh38]
Chr18:28669127..28669128 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.354+30A>G single nucleotide variant not provided [RCV001593495] Chr18:31092071 [GRCh38]
Chr18:28672034 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.46C>A (p.Arg16=) single nucleotide variant not provided [RCV001723473] Chr18:31101926 [GRCh38]
Chr18:28681889 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+197A>T single nucleotide variant not provided [RCV001551054] Chr18:31082041 [GRCh38]
Chr18:28662007 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2125+189C>T single nucleotide variant not provided [RCV001556674] Chr18:31071416 [GRCh38]
Chr18:28651382 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.154+198C>T single nucleotide variant not provided [RCV001593782] Chr18:31093361 [GRCh38]
Chr18:28673324 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+216CA[16] microsatellite not provided [RCV001611261] Chr18:31074422..31074435 [GRCh38]
Chr18:28654388..28654401 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1888+256_1888+262del deletion not provided [RCV001592360] Chr18:31074421..31074427 [GRCh38]
Chr18:28654387..28654393 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1889-29T>C single nucleotide variant not provided [RCV001552403] Chr18:31071870 [GRCh38]
Chr18:28651836 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1521-43G>A single nucleotide variant not provided [RCV001552426] Chr18:31080032 [GRCh38]
Chr18:28659998 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-140_2509-139dup duplication not provided [RCV001559617] Chr18:31068350..31068351 [GRCh38]
Chr18:28648316..28648317 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-153_2509-152del deletion not provided [RCV001703165]|not specified [RCV001699609] Chr18:31068364..31068365 [GRCh38]
Chr18:28648330..28648331 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1674A>T (p.Thr558=) single nucleotide variant not provided [RCV000979895] Chr18:31074897 [GRCh38]
Chr18:28654863 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.144T>G (p.Leu48=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000932407] Chr18:31093569 [GRCh38]
Chr18:28673532 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2541C>T (p.His847=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001457357]|Cardiomyopathy [RCV001189195]|Cardiovascular phenotype [RCV002454114] Chr18:31068180 [GRCh38]
Chr18:28648146 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.205C>T (p.Pro69Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV004789423]|Cardiomyopathy [RCV001180755]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006689] Chr18:31092250 [GRCh38]
Chr18:28672213 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.943-13T>G single nucleotide variant Cardiomyopathy [RCV001182445] Chr18:31083073 [GRCh38]
Chr18:28663039 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1444G>A (p.Glu482Lys) single nucleotide variant Cardiomyopathy [RCV001192065] Chr18:31080172 [GRCh38]
Chr18:28660138 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.146T>C (p.Val49Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517316]|Cardiomyopathy [RCV001192239]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010584] Chr18:31093567 [GRCh38]
Chr18:28673530 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001368783]|Cardiomyopathy [RCV001192245] Chr18:31083057 [GRCh38]
Chr18:28663023 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1308T>G (p.Gly436=) single nucleotide variant Cardiomyopathy [RCV001192279] Chr18:31080308 [GRCh38]
Chr18:28660274 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001218794]|Cardiomyopathy [RCV003532901]|Cardiovascular phenotype [RCV004032338] Chr18:31080301 [GRCh38]
Chr18:28660267 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2589A>G (p.Gly863=) single nucleotide variant Cardiomyopathy [RCV001175742] Chr18:31068132 [GRCh38]
Chr18:28648098 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2574C>T (p.Asn858=) single nucleotide variant Cardiomyopathy [RCV001183123] Chr18:31068147 [GRCh38]
Chr18:28648113 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002480587]|Cardiomyopathy [RCV001175958]|Cardiovascular phenotype [RCV002393387]|not provided [RCV001796378] Chr18:31079931 [GRCh38]
Chr18:28659897 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1555A>G (p.Thr519Ala) single nucleotide variant Cardiomyopathy [RCV001187491] Chr18:31079955 [GRCh38]
Chr18:28659921 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001225740]|Cardiomyopathy [RCV001187517]|Cardiovascular phenotype [RCV003293956]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008707]|not provided [RCV004761960] Chr18:31070745 [GRCh38]
Chr18:28650711 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1708G>C (p.Val570Leu) single nucleotide variant Cardiomyopathy [RCV001187750] Chr18:31074863 [GRCh38]
Chr18:28654829 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1284G>A (p.Lys428=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001404116]|Cardiomyopathy [RCV001187789]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008736] Chr18:31080332 [GRCh38]
Chr18:28660298 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001236323]|Cardiomyopathy [RCV003532915]|Cardiovascular phenotype [RCV004994355] Chr18:31091129 [GRCh38]
Chr18:28671092 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1A>G (p.Met1Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001337930]|Cardiomyopathy [RCV001188139]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010264] Chr18:31101971 [GRCh38]
Chr18:28681934 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.154+6G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001862975]|Cardiomyopathy [RCV001188394] Chr18:31093553 [GRCh38]
Chr18:28673516 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001327618]|Cardiomyopathy [RCV001188818]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010314]|not provided [RCV001547824] Chr18:31082964 [GRCh38]
Chr18:28662930 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.517A>G (p.Ile173Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001206345]|Cardiomyopathy [RCV001188820] Chr18:31089552 [GRCh38]
Chr18:28669515 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002295335]|Cardiomyopathy [RCV001188825] Chr18:31101944 [GRCh38]
Chr18:28681907 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1689G>A (p.Leu563=) single nucleotide variant Cardiomyopathy [RCV001189085] Chr18:31074882 [GRCh38]
Chr18:28654848 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003770129]|Cardiomyopathy [RCV001189090] Chr18:31071791 [GRCh38]
Chr18:28651757 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_024422.6(DSC2):c.475-3T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093979]|Cardiomyopathy [RCV001189272] Chr18:31089597 [GRCh38]
Chr18:28669560 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876213]|Cardiomyopathy [RCV001189288]|Cardiovascular phenotype [RCV002451396]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010355]|not provided [RCV001751344] Chr18:31068961 [GRCh38]
Chr18:28648927 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.902C>T (p.Thr301Ile) single nucleotide variant Cardiomyopathy [RCV001189291] Chr18:31086616 [GRCh38]
Chr18:28666579 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.825G>A (p.Thr275=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631179]|Cardiomyopathy [RCV001176548]|Cardiovascular phenotype [RCV002429797]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807315] Chr18:31086693 [GRCh38]
Chr18:28666656 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2342A>G (p.Gln781Arg) single nucleotide variant Cardiomyopathy [RCV001184097]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008429] Chr18:31069060 [GRCh38]
Chr18:28649026 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2621A>G (p.Glu874Gly) single nucleotide variant Cardiomyopathy [RCV001189333] Chr18:31068100 [GRCh38]
Chr18:28648066 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1591A>G (p.Arg531Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001128632] Chr18:31079919 [GRCh38]
Chr18:28659885 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876164]|Cardiomyopathy [RCV001185008]|Cardiovascular phenotype [RCV004033341]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008506]|not provided [RCV001811688] Chr18:31089450 [GRCh38]
Chr18:28669413 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002484034]|Cardiomyopathy [RCV001189549]|Cardiovascular phenotype [RCV002375101]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010365]|not specified [RCV005057062] Chr18:31087786 [GRCh38]
Chr18:28667749 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2003T>C (p.Leu668Pro) single nucleotide variant Cardiomyopathy [RCV001189606] Chr18:31071727 [GRCh38]
Chr18:28651693 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1946C>T (p.Pro649Leu) single nucleotide variant Cardiomyopathy [RCV001189607] Chr18:31071784 [GRCh38]
Chr18:28651750 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093986]|Cardiomyopathy [RCV001189683]|Cardiovascular phenotype [RCV003163470]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010376] Chr18:31071830 [GRCh38]
Chr18:28651796 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.678A>C (p.Pro226=) single nucleotide variant Cardiomyopathy [RCV001189789] Chr18:31087766 [GRCh38]
Chr18:28667729 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.*1356G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001123820] Chr18:31066659 [GRCh38]
Chr18:28646625 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1346T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001123821] Chr18:31066669 [GRCh38]
Chr18:28646635 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2250+12G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001123912]|not provided [RCV001638042]|not specified [RCV003331047] Chr18:31070714 [GRCh38]
Chr18:28650680 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1960G>C (p.Asp654His) single nucleotide variant Cardiomyopathy [RCV001177985] Chr18:31071770 [GRCh38]
Chr18:28651736 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.88G>A (p.Asp30Asn) single nucleotide variant Cardiomyopathy [RCV001189855]|Cardiovascular phenotype [RCV004619540]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010392] Chr18:31093625 [GRCh38]
Chr18:28673588 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005057066]|Cardiomyopathy [RCV001190060]|Cardiovascular phenotype [RCV002411715] Chr18:31092273 [GRCh38]
Chr18:28672236 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1972A>G (p.Met658Val) single nucleotide variant Cardiomyopathy [RCV001190066] Chr18:31071758 [GRCh38]
Chr18:28651724 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.187C>T (p.Leu63=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093922]|Cardiomyopathy [RCV001185677]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008548] Chr18:31092268 [GRCh38]
Chr18:28672231 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001862919]|Cardiomyopathy [RCV001185710] Chr18:31080102 [GRCh38]
Chr18:28660068 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly) single nucleotide variant Cardiomyopathy [RCV001190511]|Cardiovascular phenotype [RCV002402555]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807438] Chr18:31087675 [GRCh38]
Chr18:28667638 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1984A>G (p.Thr662Ala) single nucleotide variant Cardiomyopathy [RCV001190549] Chr18:31071746 [GRCh38]
Chr18:28651712 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001343157]|Cardiomyopathy [RCV001182454]|Cardiovascular phenotype [RCV002418617]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008301] Chr18:31071691 [GRCh38]
Chr18:28651657 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1556C>T (p.Thr519Ile) single nucleotide variant Cardiomyopathy [RCV001182642] Chr18:31079954 [GRCh38]
Chr18:28659920 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631185]|Cardiomyopathy [RCV001182854] Chr18:31079967 [GRCh38]
Chr18:28659933 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1291A>G (p.Met431Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876176]|Cardiomyopathy [RCV001185846]|Cardiovascular phenotype [RCV002379716] Chr18:31080325 [GRCh38]
Chr18:28660291 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2384A>T (p.Glu795Val) single nucleotide variant Cardiomyopathy [RCV001178755]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006501] Chr18:31069018 [GRCh38]
Chr18:28648984 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1815C>T (p.Gly605=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002560100]|Cardiomyopathy [RCV001190982] Chr18:31074756 [GRCh38]
Chr18:28654722 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1322C>T (p.Ala441Val) single nucleotide variant Cardiomyopathy [RCV001190994] Chr18:31080294 [GRCh38]
Chr18:28660260 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001223657]|Cardiomyopathy [RCV001183264]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008365]|not provided [RCV005235529] Chr18:31074878 [GRCh38]
Chr18:28654844 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2553del (p.Asp852fs) deletion Cardiomyopathy [RCV001181697] Chr18:31068168 [GRCh38]
Chr18:28648134 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876047]|Cardiomyopathy [RCV001181947]|Cardiovascular phenotype [RCV003380861]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807365] Chr18:31074859 [GRCh38]
Chr18:28654825 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002491547]|Cardiomyopathy [RCV001186146] Chr18:31068133..31068134 [GRCh38]
Chr18:28648099..28648100 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.155-1G>A single nucleotide variant Cardiomyopathy [RCV001178892] Chr18:31092301 [GRCh38]
Chr18:28672264 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.155T>C (p.Val52Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002559932]|Cardiomyopathy [RCV001186355] Chr18:31092300 [GRCh38]
Chr18:28672263 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876236]|Cardiomyopathy [RCV001191162]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010484] Chr18:31068077 [GRCh38]
Chr18:28648043 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2610T>C (p.Gly870=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002068362]|Cardiomyopathy [RCV001183672]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008400] Chr18:31068111 [GRCh38]
Chr18:28648077 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.412G>A (p.Ala138Thr) single nucleotide variant Cardiomyopathy [RCV001179186] Chr18:31091090 [GRCh38]
Chr18:28671053 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876169]|Cardiomyopathy [RCV001185137] Chr18:31082286 [GRCh38]
Chr18:28662252 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001221688]|Cardiomyopathy [RCV001192015]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010560] Chr18:31086620 [GRCh38]
Chr18:28666583 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001203586]|Cardiomyopathy [RCV001192017]|Cardiovascular phenotype [RCV002429845]|not provided [RCV002291729] Chr18:31070791 [GRCh38]
Chr18:28650757 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1673C>T (p.Thr558Ile) single nucleotide variant Cardiomyopathy [RCV001192054] Chr18:31074898 [GRCh38]
Chr18:28654864 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2595G>A (p.Val865=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002068214]|Cardiomyopathy [RCV001178140]|DSC2-related disorder [RCV003953568]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006445] Chr18:31068126 [GRCh38]
Chr18:28648092 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser) single nucleotide variant Cardiomyopathy [RCV001178269]|Cardiovascular phenotype [RCV002429803]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807327] Chr18:31082417 [GRCh38]
Chr18:28662383 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2175A>C (p.Pro725=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001415342]|Cardiovascular phenotype [RCV002427323]|not specified [RCV001194115] Chr18:31070801 [GRCh38]
Chr18:28650767 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1904T>C (p.Leu635Pro) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805935] Chr18:31071826 [GRCh38]
Chr18:28651792 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1683del (p.Thr562fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805937] Chr18:31074888 [GRCh38]
Chr18:28654854 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1502G>C (p.Arg501Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805940] Chr18:31080114 [GRCh38]
Chr18:28660080 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1300del (p.Gln434fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805946] Chr18:31080316 [GRCh38]
Chr18:28660282 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2608G>A (p.Gly870Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805924] Chr18:31068113 [GRCh38]
Chr18:28648079 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2433A>T (p.Gly811=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005061455]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805926] Chr18:31068969 [GRCh38]
Chr18:28648935 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2251-5T>C single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805927] Chr18:31069156 [GRCh38]
Chr18:28649122 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2117T>C (p.Leu706Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805932] Chr18:31071613 [GRCh38]
Chr18:28651579 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2001_2002del (p.Leu668fs) microsatellite Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805933] Chr18:31071728..31071729 [GRCh38]
Chr18:28651694..28651695 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-11G>A single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805977] Chr18:31101982 [GRCh38]
Chr18:28681945 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.437A>G (p.Glu146Gly) single nucleotide variant not provided [RCV001562321] Chr18:31091065 [GRCh38]
Chr18:28671028 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001861031]|not provided [RCV001730289] Chr18:31083044 [GRCh38]
Chr18:28663010 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2508+207A>T single nucleotide variant not provided [RCV001562898] Chr18:31068687 [GRCh38]
Chr18:28648653 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1871G>T (p.Arg624Ile) single nucleotide variant not provided [RCV002464757] Chr18:31074700 [GRCh38]
Chr18:28654666 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+83dup duplication not provided [RCV001558393] Chr18:31101815..31101816 [GRCh38]
Chr18:28681778..28681779 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+51G>A single nucleotide variant not provided [RCV001553535] Chr18:31074632 [GRCh38]
Chr18:28654598 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.354+15A>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002072065]|not specified [RCV001553574] Chr18:31092086 [GRCh38]
Chr18:28672049 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2628A>C (p.Gln876His) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805923] Chr18:31068093 [GRCh38]
Chr18:28648059 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1378G>A (p.Val460Ile) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805943] Chr18:31080238 [GRCh38]
Chr18:28660204 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1301A>G (p.Gln434Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805945] Chr18:31080315 [GRCh38]
Chr18:28660281 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1245A>T (p.Gly415=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805948] Chr18:31082256 [GRCh38]
Chr18:28662222 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1079A>G (p.Tyr360Cys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805951] Chr18:31082422 [GRCh38]
Chr18:28662388 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.993G>C (p.Gln331His) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805955] Chr18:31083010 [GRCh38]
Chr18:28662976 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.633A>C (p.Ile211=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805957] Chr18:31087811 [GRCh38]
Chr18:28667774 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630G>A (p.Glu210=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805959] Chr18:31089439 [GRCh38]
Chr18:28669402 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.615G>C (p.Gln205His) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805961] Chr18:31089454 [GRCh38]
Chr18:28669417 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.586_587insCCTGTGTCCTGTAG (p.Tyr196delinsSerCysValLeuTer) insertion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805963] Chr18:31089482..31089483 [GRCh38]
Chr18:28669445..28669446 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.542A>G (p.Glu181Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805965] Chr18:31089527 [GRCh38]
Chr18:28669490 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.421C>A (p.Pro141Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805966] Chr18:31091081 [GRCh38]
Chr18:28671044 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.325A>G (p.Ile109Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805969] Chr18:31092130 [GRCh38]
Chr18:28672093 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.302C>G (p.Thr101Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805970] Chr18:31092153 [GRCh38]
Chr18:28672116 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.260T>C (p.Leu87Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805972] Chr18:31092195 [GRCh38]
Chr18:28672158 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.175A>C (p.Thr59Pro) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805974] Chr18:31092280 [GRCh38]
Chr18:28672243 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.630+256_630+257dup duplication not provided [RCV001540906] Chr18:31089164..31089165 [GRCh38]
Chr18:28669127..28669128 [GRCh37]
Chr18:18q12.1		 benign
NC_000018.10:g.31102708del deletion not provided [RCV001716316] Chr18:31102706 [GRCh38]
Chr18:28682669 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2126-20A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002072941]|not provided [RCV001618169] Chr18:31070870 [GRCh38]
Chr18:28650836 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1263+143A>T single nucleotide variant not provided [RCV001596666] Chr18:31082095 [GRCh38]
Chr18:28662061 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+216CA[18] microsatellite not provided [RCV001595984] Chr18:31074422..31074431 [GRCh38]
Chr18:28654388..28654397 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2685dup (p.Glu896fs) duplication not provided [RCV001673372] Chr18:31068035..31068036 [GRCh38]
Chr18:28648001..28648002 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.942+10_942+11insATT insertion not provided [RCV001617626] Chr18:31086565..31086566 [GRCh38]
Chr18:28666528..28666529 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1888+216CA[19] microsatellite not provided [RCV001678231] Chr18:31074422..31074429 [GRCh38]
Chr18:28654388..28654395 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1888+216CA[22] microsatellite not provided [RCV001677036] Chr18:31074422..31074423 [GRCh38]
Chr18:28654388..28654389 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1263+196del deletion not provided [RCV001658695] Chr18:31082042 [GRCh38]
Chr18:28662008 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1104A>T (p.Thr368=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093757]|Cardiomyopathy [RCV001175942] Chr18:31082397 [GRCh38]
Chr18:28662363 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.638C>T (p.Ala213Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517312]|Cardiomyopathy [RCV001183417]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807378] Chr18:31087806 [GRCh38]
Chr18:28667769 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1708G>A (p.Val570Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517304]|Cardiomyopathy [RCV001176150] Chr18:31074863 [GRCh38]
Chr18:28654829 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.579A>C (p.Gly193=) single nucleotide variant Cardiomyopathy [RCV001184419] Chr18:31089490 [GRCh38]
Chr18:28669453 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.172T>C (p.Phe58Leu) single nucleotide variant Cardiomyopathy [RCV001177190] Chr18:31092283 [GRCh38]
Chr18:28672246 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.776-3T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001296987]|Cardiomyopathy [RCV001177212] Chr18:31086745 [GRCh38]
Chr18:28666708 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.676C>T (p.Pro226Ser) single nucleotide variant Cardiomyopathy [RCV001180385]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006648] Chr18:31087768 [GRCh38]
Chr18:28667731 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1438A>G (p.Met480Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001875987]|Cardiomyopathy [RCV001180434]|Cardiovascular phenotype [RCV002393405]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006652] Chr18:31080178 [GRCh38]
Chr18:28660144 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.129A>G (p.Leu43=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002559132]|Cardiomyopathy [RCV001187712]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008728] Chr18:31093584 [GRCh38]
Chr18:28673547 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.396C>T (p.Arg132=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002068275]|Cardiomyopathy [RCV001180457]|Cardiovascular phenotype [RCV002320401]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006654] Chr18:31091106 [GRCh38]
Chr18:28671069 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.429G>A (p.Ser143=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002068276]|Cardiomyopathy [RCV001180483]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006658] Chr18:31091073 [GRCh38]
Chr18:28671036 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2131C>T (p.Leu711=) single nucleotide variant Cardiomyopathy [RCV001187798]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807416] Chr18:31070845 [GRCh38]
Chr18:28650811 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2319A>T (p.Gly773=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001123911] Chr18:31069083 [GRCh38]
Chr18:28649049 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.475-13A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001124011]|Cardiomyopathy [RCV001183211]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000249]|not provided [RCV001724252]|not specified [RCV001701290] Chr18:31089607 [GRCh38]
Chr18:28669570 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001456097]|Cardiomyopathy [RCV001177418]|Cardiovascular phenotype [RCV003346349]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006384]|not specified [RCV001192740] Chr18:31089508 [GRCh38]
Chr18:28669471 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002560863]|Cardiomyopathy [RCV001184806]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008485] Chr18:31080110 [GRCh38]
Chr18:28660076 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1213A>T (p.Lys405Ter) single nucleotide variant Cardiomyopathy [RCV001177546]|not provided [RCV004584859] Chr18:31082288 [GRCh38]
Chr18:28662254 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_024422.6(DSC2):c.717C>T (p.Asn239=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093905]|Cardiomyopathy [RCV001184890] Chr18:31087727 [GRCh38]
Chr18:28667690 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2570A>G (p.Tyr857Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093907]|Cardiomyopathy [RCV001185044] Chr18:31068151 [GRCh38]
Chr18:28648117 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2568A>G (p.Thr856=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002068207]|Cardiomyopathy [RCV001177760]|Cardiovascular phenotype [RCV004033012]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006409] Chr18:31068153 [GRCh38]
Chr18:28648119 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001315303]|Cardiomyopathy [RCV001185090] Chr18:31087692 [GRCh38]
Chr18:28667655 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1651G>A (p.Ala551Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093962]|Cardiomyopathy [RCV001188044] Chr18:31079859 [GRCh38]
Chr18:28659825 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1307G>C (p.Gly436Ala) single nucleotide variant Cardiomyopathy [RCV001188203]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010267] Chr18:31080309 [GRCh38]
Chr18:28660275 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1035T>G (p.Ile345Met) single nucleotide variant Primary dilated cardiomyopathy [RCV001093566] Chr18:31082968 [GRCh38]
Chr18:28662934 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1352C>G (p.Ser451Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093911]|Cardiomyopathy [RCV001185165] Chr18:31080264 [GRCh38]
Chr18:28660230 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_024422.6(DSC2):c.1417C>T (p.Pro473Ser) single nucleotide variant Cardiomyopathy [RCV001178018] Chr18:31080199 [GRCh38]
Chr18:28660165 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2108G>T (p.Gly703Val) single nucleotide variant Cardiomyopathy [RCV001171301] Chr18:31071622 [GRCh38]
Chr18:28651588 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.879C>T (p.Thr293=) single nucleotide variant Cardiomyopathy [RCV001188258] Chr18:31086639 [GRCh38]
Chr18:28666602 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2254T>C (p.Ser752Pro) single nucleotide variant Cardiomyopathy [RCV001188286] Chr18:31069148 [GRCh38]
Chr18:28649114 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*692A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001128530] Chr18:31067323 [GRCh38]
Chr18:28647289 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001859109]|Cardiomyopathy [RCV001185450] Chr18:31068124 [GRCh38]
Chr18:28648090 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1210T>G (p.Phe404Val) single nucleotide variant Cardiomyopathy [RCV001178267] Chr18:31082291 [GRCh38]
Chr18:28662257 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_024422.6(DSC2):c.246A>C (p.Thr82=) single nucleotide variant Cardiomyopathy [RCV001188727] Chr18:31092209 [GRCh38]
Chr18:28672172 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1707C>T (p.Asp569=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001421946]|Cardiomyopathy [RCV001188729]|Cardiovascular phenotype [RCV002402551]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010301] Chr18:31074864 [GRCh38]
Chr18:28654830 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631192]|Cardiomyopathy [RCV001188782]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010309] Chr18:31080138 [GRCh38]
Chr18:28660104 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+2T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001233902]|Cardiomyopathy [RCV001188799] Chr18:31101901 [GRCh38]
Chr18:28681864 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.70-9A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001433689]|Cardiomyopathy [RCV001189019] Chr18:31093652 [GRCh38]
Chr18:28673615 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.336T>C (p.Phe112=) single nucleotide variant Cardiomyopathy [RCV001185704] Chr18:31092119 [GRCh38]
Chr18:28672082 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2546A>C (p.His849Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001403218]|Cardiomyopathy [RCV001189246]|Cardiovascular phenotype [RCV002429833] Chr18:31068175 [GRCh38]
Chr18:28648141 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.237C>T (p.Val79=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002558960]|Cardiomyopathy [RCV001180617]|Cardiovascular phenotype [RCV002451374]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006671] Chr18:31092218 [GRCh38]
Chr18:28672181 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.660G>A (p.Gly220=) single nucleotide variant Cardiomyopathy [RCV001186020] Chr18:31087784 [GRCh38]
Chr18:28667747 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002558888]|Cardiomyopathy [RCV001178741]|Cardiovascular phenotype [RCV004033028]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006499] Chr18:31079890 [GRCh38]
Chr18:28659856 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_024422.6(DSC2):c.2250+1G>A single nucleotide variant Cardiomyopathy [RCV001178765] Chr18:31070725 [GRCh38]
Chr18:28650691 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2438A>C (p.His813Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001875863]|Cardiomyopathy [RCV001177857]|Cardiovascular phenotype [RCV002451363]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006419]|not provided [RCV005093789] Chr18:31068964 [GRCh38]
Chr18:28648930 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001374096]|Cardiomyopathy [RCV001177969]|not provided [RCV003318665] Chr18:31068016 [GRCh38]
Chr18:28647982 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.797G>A (p.Cys266Tyr) single nucleotide variant Cardiomyopathy [RCV001185347] Chr18:31086721 [GRCh38]
Chr18:28666684 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001207317]|Cardiomyopathy [RCV001189571]|Cardiovascular phenotype [RCV003163469]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010368] Chr18:31083038 [GRCh38]
Chr18:28663004 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*926G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126469] Chr18:31067089 [GRCh38]
Chr18:28647055 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2126-11T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126573]|Cardiomyopathy [RCV003532879]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000251] Chr18:31070861 [GRCh38]
Chr18:28650827 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126682]|Cardiomyopathy [RCV001176570]|Cardiovascular phenotype [RCV002393362]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000252] Chr18:31101958 [GRCh38]
Chr18:28681921 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.869C>A (p.Pro290Gln) single nucleotide variant Cardiomyopathy [RCV001186126] Chr18:31086649 [GRCh38]
Chr18:28666612 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69G>A (p.Ala23=) single nucleotide variant Cardiomyopathy [RCV001185439]|Cardiovascular phenotype [RCV004994292] Chr18:31101903 [GRCh38]
Chr18:28681866 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003769923]|Cardiomyopathy [RCV001178224] Chr18:31068950 [GRCh38]
Chr18:28648916 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002560945]|Cardiomyopathy [RCV001189830] Chr18:31068037 [GRCh38]
Chr18:28648003 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1448A>T (p.Asn483Ile) single nucleotide variant Cardiomyopathy [RCV001178999] Chr18:31080168 [GRCh38]
Chr18:28660134 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631195]|Cardiomyopathy [RCV001190735]|Cardiovascular phenotype [RCV004033411]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010456] Chr18:31074725 [GRCh38]
Chr18:28654691 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.-95C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001127071] Chr18:31102066 [GRCh38]
Chr18:28682029 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-187C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001127072] Chr18:31102158 [GRCh38]
Chr18:28682121 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001399721]|Cardiomyopathy [RCV001181212]|Cardiovascular phenotype [RCV004994281]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006726] Chr18:31068150 [GRCh38]
Chr18:28648116 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.231T>G (p.Gly77=) single nucleotide variant Cardiomyopathy [RCV001179176] Chr18:31092224 [GRCh38]
Chr18:28672187 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.425G>A (p.Cys142Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093812]|Cardiomyopathy [RCV001179195]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807338] Chr18:31091077 [GRCh38]
Chr18:28671040 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002555500]|Cardiomyopathy [RCV001179206]|Cardiovascular phenotype [RCV002402535]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006542] Chr18:31079882 [GRCh38]
Chr18:28659848 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2509-120G>A single nucleotide variant Cardiomyopathy [RCV001190778] Chr18:31068332 [GRCh38]
Chr18:28648298 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.753A>G (p.Thr251=) single nucleotide variant Cardiomyopathy [RCV001191031]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010475] Chr18:31087691 [GRCh38]
Chr18:28667654 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.975A>G (p.Val325=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517315]|Cardiomyopathy [RCV001191036]|Cardiovascular phenotype [RCV002375108]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010476] Chr18:31083028 [GRCh38]
Chr18:28662994 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.355-9T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002069142]|Cardiomyopathy [RCV001191168]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010489] Chr18:31091156 [GRCh38]
Chr18:28671119 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876237]|Cardiomyopathy [RCV001191174]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010490] Chr18:31089560 [GRCh38]
Chr18:28669523 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1980T>C (p.Ser660=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002069144]|Cardiomyopathy [RCV001191175]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807447] Chr18:31071750 [GRCh38]
Chr18:28651716 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2382G>A (p.Ser794=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001493364]|Cardiomyopathy [RCV001179262]|Cardiovascular phenotype [RCV002451367]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006552] Chr18:31069020 [GRCh38]
Chr18:28648986 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2436A>G (p.Gly812=) single nucleotide variant Cardiomyopathy [RCV001179274]|Cardiovascular phenotype [RCV002451368]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006554] Chr18:31068966 [GRCh38]
Chr18:28648932 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1848T>C (p.Thr616=) single nucleotide variant Cardiomyopathy [RCV001179276] Chr18:31074723 [GRCh38]
Chr18:28654689 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.943-9T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001460830]|Cardiomyopathy [RCV001179320] Chr18:31083069 [GRCh38]
Chr18:28663035 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.662A>G (p.Tyr221Cys) single nucleotide variant Cardiomyopathy [RCV001186614] Chr18:31087782 [GRCh38]
Chr18:28667745 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2509-116A>G single nucleotide variant Cardiomyopathy [RCV001176326]|not provided [RCV003325546] Chr18:31068328 [GRCh38]
Chr18:28648294 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1978del (p.Ser660fs) deletion Cardiomyopathy [RCV001191298] Chr18:31071752 [GRCh38]
Chr18:28651718 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1465A>G (p.Thr489Ala) single nucleotide variant Cardiomyopathy [RCV001191367]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010503] Chr18:31080151 [GRCh38]
Chr18:28660117 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1888+1G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003769026]|Cardiomyopathy [RCV001189605]|not provided [RCV001092833] Chr18:31074682 [GRCh38]
Chr18:28654648 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1077+9A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122944] Chr18:31082917 [GRCh38]
Chr18:28662883 [GRCh37]
Chr18:18q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.1346C>G (p.Pro449Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001045916] Chr18:31080270 [GRCh38]
Chr18:28660236 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1112T>C (p.Val371Ala) single nucleotide variant Cardiomyopathy [RCV001181468] Chr18:31082389 [GRCh38]
Chr18:28662355 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.331G>C (p.Val111Leu) single nucleotide variant Cardiomyopathy [RCV001179468]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006566] Chr18:31092124 [GRCh38]
Chr18:28672087 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631190]|Cardiomyopathy [RCV001187284]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008689] Chr18:31080307 [GRCh38]
Chr18:28660273 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2126G>C (p.Cys709Ser) single nucleotide variant Cardiomyopathy [RCV001187285] Chr18:31070850 [GRCh38]
Chr18:28650816 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002559127]|Cardiomyopathy [RCV001187384]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008693] Chr18:31101952 [GRCh38]
Chr18:28681915 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn) indel Arrhythmogenic right ventricular dysplasia 11 [RCV002491522]|Cardiomyopathy [RCV001180136] Chr18:31087698..31087700 [GRCh38]
Chr18:28667661..28667663 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2391C>T (p.Cys797=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001416958]|Cardiomyopathy [RCV001191750]|Cardiovascular phenotype [RCV002451399]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010542] Chr18:31069011 [GRCh38]
Chr18:28648977 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002559205]|Cardiomyopathy [RCV001191872]|Cardiovascular phenotype [RCV004619542]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010550]|not provided [RCV001773445] Chr18:31079929 [GRCh38]
Chr18:28659895 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876243]|Cardiomyopathy [RCV001192026]|Cardiovascular phenotype [RCV002393444]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010563] Chr18:31080180 [GRCh38]
Chr18:28660146 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002558917]|Cardiomyopathy [RCV001179658] Chr18:31080217 [GRCh38]
Chr18:28660183 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2569T>C (p.Tyr857His) single nucleotide variant Cardiomyopathy [RCV001179662] Chr18:31068152 [GRCh38]
Chr18:28648118 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1307G>A (p.Gly436Asp) single nucleotide variant Cardiomyopathy [RCV001182832] Chr18:31080309 [GRCh38]
Chr18:28660275 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631177]|Cardiomyopathy [RCV001185823]|not specified [RCV001175515] Chr18:31079917 [GRCh38]
Chr18:28659883 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.715_728dup (p.Phe243fs) duplication Cardiomyopathy [RCV001192291]|not provided [RCV002462349] Chr18:31087715..31087716 [GRCh38]
Chr18:28667678..28667679 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.2368G>A (p.Gly790Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093886]|Cardiomyopathy [RCV001184014]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008424] Chr18:31069034 [GRCh38]
Chr18:28649000 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2371C>A (p.His791Asn) single nucleotide variant Cardiomyopathy [RCV001184441] Chr18:31069031 [GRCh38]
Chr18:28648997 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1485A>G (p.Ala495=) single nucleotide variant Cardiomyopathy [RCV001179723] Chr18:31080131 [GRCh38]
Chr18:28660097 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002559960]|Cardiomyopathy [RCV001186998] Chr18:31068027 [GRCh38]
Chr18:28647993 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093819]|Cardiomyopathy [RCV001179733]|Cardiovascular phenotype [RCV002429807]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006599] Chr18:31070818 [GRCh38]
Chr18:28650784 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2125+5G>T single nucleotide variant Cardiomyopathy [RCV001179734] Chr18:31071600 [GRCh38]
Chr18:28651566 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001859121]|Cardiomyopathy [RCV001187011]|Cardiovascular phenotype [RCV002411708]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008650] Chr18:31074709 [GRCh38]
Chr18:28654675 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2419G>C (p.Asp807His) single nucleotide variant Cardiomyopathy [RCV001187028]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807411] Chr18:31068983 [GRCh38]
Chr18:28648949 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-12C>G single nucleotide variant Cardiomyopathy [RCV001187065] Chr18:31101983 [GRCh38]
Chr18:28681946 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2394G>A (p.Arg798=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631188]|Cardiomyopathy [RCV001187074]|Cardiovascular phenotype [RCV002451389]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807413] Chr18:31069008 [GRCh38]
Chr18:28648974 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876092]|Cardiomyopathy [RCV001183190]|Cardiovascular phenotype [RCV004994284]|not provided [RCV004695130] Chr18:31069039 [GRCh38]
Chr18:28649005 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003770024]|Cardiomyopathy [RCV001183438]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008384] Chr18:31074775 [GRCh38]
Chr18:28654741 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1927T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122727]|not provided [RCV004694759] Chr18:31066088 [GRCh38]
Chr18:28646054 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001124009]|Cardiovascular phenotype [RCV002355117]|not provided [RCV001726433]|not specified [RCV001699511] Chr18:31089481 [GRCh38]
Chr18:28669444 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.2691A>G (p.Ala897=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005093746]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000282]|not specified [RCV001174672] Chr18:31068030 [GRCh38]
Chr18:28647996 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2412C>A (p.His804Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002557502]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000284]|not specified [RCV001174755] Chr18:31068990 [GRCh38]
Chr18:28648956 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2119C>G (p.Leu707Val) single nucleotide variant Cardiomyopathy [RCV001182413] Chr18:31071611 [GRCh38]
Chr18:28651577 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1560T>C (p.Ile520=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001456330]|Cardiomyopathy [RCV001179909]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807343] Chr18:31079950 [GRCh38]
Chr18:28659916 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2403C>T (p.Gly801=) single nucleotide variant Cardiomyopathy [RCV001179972]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807350]|not provided [RCV003405368] Chr18:31068999 [GRCh38]
Chr18:28648965 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2370A>G (p.Gly790=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001422032]|Cardiomyopathy [RCV001183852]|Cardiovascular phenotype [RCV002451382]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008416] Chr18:31069032 [GRCh38]
Chr18:28648998 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2518C>T (p.Leu840=) single nucleotide variant Cardiomyopathy [RCV001180154] Chr18:31068203 [GRCh38]
Chr18:28648169 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1292T>C (p.Met431Thr) single nucleotide variant Cardiomyopathy [RCV001180160]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006630] Chr18:31080324 [GRCh38]
Chr18:28660290 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*753T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001128529] Chr18:31067262 [GRCh38]
Chr18:28647228 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1140T>C (p.Asp380=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001406552]|Cardiomyopathy [RCV001182883] Chr18:31082361 [GRCh38]
Chr18:28662327 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.895C>T (p.Pro299Ser) single nucleotide variant Cardiomyopathy [RCV001187520] Chr18:31086623 [GRCh38]
Chr18:28666586 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001369547]|Cardiomyopathy [RCV001187609]|Cardiovascular phenotype [RCV004033373] Chr18:31082970 [GRCh38]
Chr18:28662936 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001875984]|Cardiomyopathy [RCV001180351]|Cardiovascular phenotype [RCV002379699]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006645] Chr18:31093580 [GRCh38]
Chr18:28673543 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2686_2687insGA (p.Glu896fs) insertion none provided [RCV001000287] Chr18:31068034..31068035 [GRCh38]
Chr18:28648000..28648001 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1889-291T>C single nucleotide variant not provided [RCV001694287] Chr18:31072132 [GRCh38]
Chr18:28652098 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1664G>A (p.Gly555Glu) single nucleotide variant Cardiomyopathy [RCV001181207] Chr18:31074907 [GRCh38]
Chr18:28654873 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1264-9C>T single nucleotide variant Cardiomyopathy [RCV001181235] Chr18:31080361 [GRCh38]
Chr18:28660327 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631182]|Cardiomyopathy [RCV001181260]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006730] Chr18:31074805 [GRCh38]
Chr18:28654771 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1057C>G (p.Pro353Ala) single nucleotide variant Cardiomyopathy [RCV001181892] Chr18:31082946 [GRCh38]
Chr18:28662912 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.24C>T (p.Gly8=) single nucleotide variant Cardiomyopathy [RCV001181973]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006773] Chr18:31101948 [GRCh38]
Chr18:28681911 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1321_1329del (p.Ala441_Phe443del) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001049623] Chr18:31080287..31080295 [GRCh38]
Chr18:28660253..28660261 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2116T>C (p.Leu706=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001417697]|Cardiomyopathy [RCV001182373] Chr18:31071614 [GRCh38]
Chr18:28651580 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NC_000018.9:g.(?_28647971)_(29178648_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV001033848] Chr18:28647971..29178648 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2251-98T>C single nucleotide variant not provided [RCV001711035] Chr18:31069249 [GRCh38]
Chr18:28649215 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001882576]|Cardiomyopathy [RCV001799097]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808103]|not provided [RCV001528530] Chr18:31068205 [GRCh38]
Chr18:28648171 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+103G>C single nucleotide variant not provided [RCV001586157] Chr18:31101800 [GRCh38]
Chr18:28681763 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003769977]|Cardiomyopathy [RCV001180886] Chr18:31068124 [GRCh38]
Chr18:28648090 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001233448]|Cardiovascular phenotype [RCV002393581]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004851]|not provided [RCV001549925] Chr18:31087698 [GRCh38]
Chr18:28667661 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001212326]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010688] Chr18:31092269 [GRCh38]
Chr18:28672232 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001247273]|Cardiomyopathy [RCV003532921]|Cardiovascular phenotype [RCV002436970]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004909]|not provided [RCV003156329] Chr18:31068209 [GRCh38]
Chr18:28648175 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001057189]|Cardiomyopathy [RCV003532365]|Cardiovascular phenotype [RCV003160460]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000086] Chr18:31071716 [GRCh38]
Chr18:28651682 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1341_1355del (p.Ser448_Ala452del) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001051214] Chr18:31080261..31080275 [GRCh38]
Chr18:28660227..28660241 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001057836]|Cardiomyopathy [RCV003532366] Chr18:31080266 [GRCh38]
Chr18:28660232 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001057845]|Cardiovascular phenotype [RCV002320307] Chr18:31092146 [GRCh38]
Chr18:28672109 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001124010]|Cardiomyopathy [RCV001187156]|Cardiovascular phenotype [RCV002339410]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004807310] Chr18:31089552 [GRCh38]
Chr18:28669515 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.983T>A (p.Met328Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001207732] Chr18:31083020 [GRCh38]
Chr18:28662986 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1882A>G (p.Ile628Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001054022] Chr18:31074689 [GRCh38]
Chr18:28654655 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1686A>C (p.Thr562=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002558967]|Cardiomyopathy [RCV001180752]|Cardiovascular phenotype [RCV004033053] Chr18:31074885 [GRCh38]
Chr18:28654851 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1763C>T (p.Thr588Ile) single nucleotide variant Cardiomyopathy [RCV001182359] Chr18:31074808 [GRCh38]
Chr18:28654774 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2509-108A>T single nucleotide variant Cardiomyopathy [RCV001183869] Chr18:31068320 [GRCh38]
Chr18:28648286 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001208716]|Cardiomyopathy [RCV001176588]|Cardiovascular phenotype [RCV004619528]|not provided [RCV003156318] Chr18:31087777 [GRCh38]
Chr18:28667740 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1760C>T (p.Pro587Leu) single nucleotide variant Cardiomyopathy [RCV001180634]|Cardiovascular phenotype [RCV002411683]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006674] Chr18:31074811 [GRCh38]
Chr18:28654777 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.474+2T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001235136] Chr18:31091026 [GRCh38]
Chr18:28670989 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001232759]|Cardiovascular phenotype [RCV002411858] Chr18:31074769 [GRCh38]
Chr18:28654735 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001236508]|Cardiovascular phenotype [RCV002447180] Chr18:31069123 [GRCh38]
Chr18:28649089 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1486del (p.Tyr496fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001228853] Chr18:31080130 [GRCh38]
Chr18:28660096 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.*1658G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122730] Chr18:31066357 [GRCh38]
Chr18:28646323 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2162del (p.Thr721fs) deletion Cardiomyopathy [RCV001181412] Chr18:31070814 [GRCh38]
Chr18:28650780 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1003T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001126468] Chr18:31067012 [GRCh38]
Chr18:28646978 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1308T>C (p.Gly436=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517309]|Cardiomyopathy [RCV001181944]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006770] Chr18:31080308 [GRCh38]
Chr18:28660274 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001300149]|Cardiomyopathy [RCV001182296]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008285] Chr18:31091074 [GRCh38]
Chr18:28671037 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517303]|Cardiomyopathy [RCV001191764]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000279] Chr18:31089569 [GRCh38]
Chr18:28669532 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001876079]|Cardiomyopathy [RCV001182902] Chr18:31101910 [GRCh38]
Chr18:28681873 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1588T>C (p.Phe530Leu) single nucleotide variant Cardiomyopathy [RCV001175809] Chr18:31079922 [GRCh38]
Chr18:28659888 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.230G>T (p.Gly77Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631178]|Cardiomyopathy [RCV001175927]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000305] Chr18:31092225 [GRCh38]
Chr18:28672188 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*3G>T single nucleotide variant Cardiomyopathy [RCV001176005] Chr18:31068012 [GRCh38]
Chr18:28647978 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.253A>G (p.Ile85Val) single nucleotide variant Cardiomyopathy [RCV001176171] Chr18:31092202 [GRCh38]
Chr18:28672165 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001346287]|Cardiomyopathy [RCV001176467] Chr18:31068113 [GRCh38]
Chr18:28648079 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1 copy number loss not provided [RCV001006964] Chr18:22868759..34335753 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_024422.6(DSC2):c.873A>C (p.Ser291=) single nucleotide variant Cardiomyopathy [RCV001176722] Chr18:31086645 [GRCh38]
Chr18:28666608 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.959del (p.Gln320fs) deletion Arrhythmogenic right ventricular cardiomyopathy [RCV004017794]|Cardiomyopathy [RCV001184380] Chr18:31083044 [GRCh38]
Chr18:28663010 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1786G>A (p.Ala596Thr) single nucleotide variant Cardiomyopathy [RCV001177168]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006369] Chr18:31074785 [GRCh38]
Chr18:28654751 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001875854]|Cardiomyopathy [RCV001177645]|Cardiovascular phenotype [RCV002402532]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006395] Chr18:31079963 [GRCh38]
Chr18:28659929 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1700T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122729] Chr18:31066315 [GRCh38]
Chr18:28646281 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*472T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001122824] Chr18:31067543 [GRCh38]
Chr18:28647509 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-409C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001123043] Chr18:31102380 [GRCh38]
Chr18:28682343 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.48G>A (p.Arg16=) single nucleotide variant Cardiomyopathy [RCV001185239] Chr18:31101924 [GRCh38]
Chr18:28681887 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.*798T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001128528] Chr18:31067217 [GRCh38]
Chr18:28647183 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2039G>A (p.Arg680His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001056006]|Cardiomyopathy [RCV001181489]|Cardiovascular phenotype [RCV003307878]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004000078] Chr18:31071691 [GRCh38]
Chr18:28651657 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.474+6G>A single nucleotide variant Cardiomyopathy [RCV001178381]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006471] Chr18:31091022 [GRCh38]
Chr18:28670985 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-18T>C single nucleotide variant not specified [RCV001000450] Chr18:31068230 [GRCh38]
Chr18:28648196 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1780A>C (p.Ile594Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001216437] Chr18:31074791 [GRCh38]
Chr18:28654757 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.559T>C (p.Tyr187His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001042346] Chr18:31089510 [GRCh38]
Chr18:28669473 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV004017778]|Arrhythmogenic right ventricular dysplasia 11 [RCV001038836] Chr18:31092187 [GRCh38]
Chr18:28672150 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_024422.6(DSC2):c.1058C>T (p.Pro353Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001215994] Chr18:31082945 [GRCh38]
Chr18:28662911 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001258213]|Dilated cardiomyopathy 1A [RCV001256687] Chr18:31080335 [GRCh38]
Chr18:28660301 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1960_1961del (p.Arg653_Asp654insTer) microsatellite Cardiomyopathy [RCV001804311] Chr18:31071769..31071770 [GRCh38]
Chr18:28651735..28651736 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:25329706-29734723)x3 copy number gain not provided [RCV001258867] Chr18:25329706..29734723 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.631-135C>T single nucleotide variant not provided [RCV001580879] Chr18:31087948 [GRCh38]
Chr18:28667911 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs) deletion Arrhythmogenic right ventricular dysplasia 1 [RCV001256685]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004922] Chr18:31071814..31071817 [GRCh38]
Chr18:28651780..28651783 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1909T>C (p.Tyr637His) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805934] Chr18:31071821 [GRCh38]
Chr18:28651787 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1826A>T (p.Asp609Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005105195]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805936] Chr18:31074745 [GRCh38]
Chr18:28654711 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1520G>C (p.Arg507Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805939] Chr18:31080096 [GRCh38]
Chr18:28660062 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1491_1496del (p.Asp497_Pro498del) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805941] Chr18:31080120..31080125 [GRCh38]
Chr18:28660086..28660091 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1487del (p.Tyr496fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805942] Chr18:31080129 [GRCh38]
Chr18:28660095 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1229C>T (p.Ala410Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805949] Chr18:31082272 [GRCh38]
Chr18:28662238 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.588_589insCGTGTCCT (p.Cys197fs) insertion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805962] Chr18:31089480..31089481 [GRCh38]
Chr18:28669443..28669444 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.415C>T (p.Pro139Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805967] Chr18:31091087 [GRCh38]
Chr18:28671050 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1 copy number loss See cases [RCV001263022] Chr18:23971647..33737300 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_024422.6(DSC2):c.1888+268_1888+274del deletion not provided [RCV001565056] Chr18:31074409..31074415 [GRCh38]
Chr18:28654375..28654381 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.70-307A>T single nucleotide variant not provided [RCV001641642] Chr18:31093950 [GRCh38]
Chr18:28673913 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001294542]|Cardiomyopathy [RCV001806098]|Cardiovascular phenotype [RCV002447262]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004004954]|not provided [RCV004720839] Chr18:31069048 [GRCh38]
Chr18:28649014 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1111G>A (p.Val371Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001349668] Chr18:31082390 [GRCh38]
Chr18:28662356 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2176A>G (p.Lys726Glu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805930] Chr18:31070800 [GRCh38]
Chr18:28650766 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1371_1376del (p.457TV[1]) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805944] Chr18:31080240..31080245 [GRCh38]
Chr18:28660206..28660211 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1121del (p.Leu374fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805950] Chr18:31082380 [GRCh38]
Chr18:28662346 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1078-4T>A single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805952] Chr18:31082427 [GRCh38]
Chr18:28662393 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.19T>G (p.Ser7Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805976] Chr18:31101953 [GRCh38]
Chr18:28681916 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.637G>A (p.Ala213Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001258214] Chr18:31087807 [GRCh38]
Chr18:28667770 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1436G>C (p.Arg479Pro) single nucleotide variant not specified [RCV001255515] Chr18:31080180 [GRCh38]
Chr18:28660146 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_28647971)_(28673616_?)dup duplication Arrhythmogenic right ventricular cardiomyopathy, type 11 [RCV001301197] Chr18:28647971..28673616 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2408A>G (p.His803Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001327507]|Cardiovascular phenotype [RCV002447380] Chr18:31068994 [GRCh38]
Chr18:28648960 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2215G>T (p.Val739Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001339154] Chr18:31070761 [GRCh38]
Chr18:28650727 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001327891]|Cardiovascular phenotype [RCV002412050]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005137] Chr18:31071814 [GRCh38]
Chr18:28651780 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2068G>T (p.Val690Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001342915]|Cardiovascular phenotype [RCV004619651]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808021] Chr18:31071662 [GRCh38]
Chr18:28651628 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001314158]|Cardiovascular phenotype [RCV002412004]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005071] Chr18:31086742 [GRCh38]
Chr18:28666705 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2262T>C (p.Asn754=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001433846] Chr18:31069140 [GRCh38]
Chr18:28649106 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001363242]|Cardiovascular phenotype [RCV002395811] Chr18:31080214 [GRCh38]
Chr18:28660180 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.942+8A>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632700] Chr18:31086568 [GRCh38]
Chr18:28666531 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001302916]|Cardiomyopathy [RCV003532934]|Cardiovascular phenotype [RCV002447297]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005016]|not specified [RCV005236778] Chr18:31092216 [GRCh38]
Chr18:28672179 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1562A>C (p.Asp521Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001294817] Chr18:31079948 [GRCh38]
Chr18:28659914 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.355G>A (p.Val119Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001371907] Chr18:31091147 [GRCh38]
Chr18:28671110 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.475-200C>T single nucleotide variant not provided [RCV001581579] Chr18:31089794 [GRCh38]
Chr18:28669757 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+3_1263+4insG insertion Arrhythmogenic right ventricular dysplasia 11 [RCV001321516] Chr18:31082234..31082235 [GRCh38]
Chr18:28662200..28662201 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.508T>C (p.Tyr170His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001300055] Chr18:31089561 [GRCh38]
Chr18:28669524 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2705G>C (p.Ter902Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805921]|not provided [RCV005054495] Chr18:31068016 [GRCh38]
Chr18:28647982 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2241T>C (p.Asp747=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805928] Chr18:31070735 [GRCh38]
Chr18:28650701 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2184T>C (p.Ile728=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805929] Chr18:31070792 [GRCh38]
Chr18:28650758 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2098A>G (p.Ile700Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001338904] Chr18:31071632 [GRCh38]
Chr18:28651598 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1523A>G (p.Tyr508Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001347273] Chr18:31079987 [GRCh38]
Chr18:28659953 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2113G>A (p.Ala705Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001314062] Chr18:31071617 [GRCh38]
Chr18:28651583 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.311A>T (p.Gln104Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001307875] Chr18:31092144 [GRCh38]
Chr18:28672107 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.448G>C (p.Gly150Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001344192] Chr18:31091054 [GRCh38]
Chr18:28671017 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1595G>A (p.Ser532Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001324378]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005123] Chr18:31079915 [GRCh38]
Chr18:28659881 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1265C>G (p.Pro422Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805947] Chr18:31080351 [GRCh38]
Chr18:28660317 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1047T>C (p.Asn349=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805954] Chr18:31082956 [GRCh38]
Chr18:28662922 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.828G>A (p.Met276Ile) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805956] Chr18:31086690 [GRCh38]
Chr18:28666653 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.631-14T>A single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805958] Chr18:31087827 [GRCh38]
Chr18:28667790 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.565G>T (p.Glu189Ter) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805964] Chr18:31089504 [GRCh38]
Chr18:28669467 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.221T>C (p.Leu74Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805973] Chr18:31092234 [GRCh38]
Chr18:28672197 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.21C>G (p.Ser7=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805975] Chr18:31101951 [GRCh38]
Chr18:28681914 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.-15C>T single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805978] Chr18:31101986 [GRCh38]
Chr18:28681949 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001341374]|Cardiovascular phenotype [RCV004619645] Chr18:31068094 [GRCh38]
Chr18:28648060 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2522G>A (p.Cys841Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001372899] Chr18:31068199 [GRCh38]
Chr18:28648165 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2149G>A (p.Gly717Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805931] Chr18:31070827 [GRCh38]
Chr18:28650793 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2147G>A (p.Cys716Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001341448] Chr18:31070829 [GRCh38]
Chr18:28650795 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.812A>T (p.Asp271Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001338389]|Cardiovascular phenotype [RCV003169594]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808018]|not provided [RCV002224066] Chr18:31086706 [GRCh38]
Chr18:28666669 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001364300]|Cardiovascular phenotype [RCV002377522] Chr18:31082262 [GRCh38]
Chr18:28662228 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1940T>C (p.Val647Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001339632] Chr18:31071790 [GRCh38]
Chr18:28651756 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2004G>A (p.Leu668=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001421785] Chr18:31071726 [GRCh38]
Chr18:28651692 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001337831] Chr18:31070740 [GRCh38]
Chr18:28650706 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.506T>C (p.Ile169Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001340549]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005167] Chr18:31089563 [GRCh38]
Chr18:28669526 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001361264]|Cardiomyopathy [RCV003532283]|Cardiovascular phenotype [RCV002332726] Chr18:31082329 [GRCh38]
Chr18:28662295 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001365691]|Cardiomyopathy [RCV001806149]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006791]|not provided [RCV001751723] Chr18:31074892 [GRCh38]
Chr18:28654858 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1520G>A (p.Arg507Lys) single nucleotide variant Cardiomyopathy [RCV001524721] Chr18:31080096 [GRCh38]
Chr18:28660062 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1571del (p.Thr524fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001389693] Chr18:31079939 [GRCh38]
Chr18:28659905 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.69+9A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001455067]|DSC2-related disorder [RCV003965901] Chr18:31101894 [GRCh38]
Chr18:28681857 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517332]|Cardiomyopathy [RCV001525350] Chr18:31069102 [GRCh38]
Chr18:28649068 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1490A>T (p.Asp497Val) single nucleotide variant Cardiomyopathy [RCV001525379]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008842] Chr18:31080126 [GRCh38]
Chr18:28660092 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.985G>A (p.Asp329Asn) single nucleotide variant Cardiomyopathy [RCV001525673]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008861] Chr18:31083018 [GRCh38]
Chr18:28662984 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.207T>C (p.Pro69=) single nucleotide variant Cardiomyopathy [RCV001525780] Chr18:31092248 [GRCh38]
Chr18:28672211 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001873690]|Cardiomyopathy [RCV001526140]|Cardiovascular phenotype [RCV002458504] Chr18:31068083 [GRCh38]
Chr18:28648049 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1711A>T (p.Asn571Tyr) single nucleotide variant Cardiomyopathy [RCV001526187] Chr18:31074860 [GRCh38]
Chr18:28654826 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1111G>T (p.Val371Leu) single nucleotide variant Cardiomyopathy [RCV001526192] Chr18:31082390 [GRCh38]
Chr18:28662356 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.367del (p.Arg123fs) deletion Cardiomyopathy [RCV001526287] Chr18:31091135 [GRCh38]
Chr18:28671098 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001872057]|Cardiomyopathy [RCV001524870] Chr18:31089484 [GRCh38]
Chr18:28669447 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1462A>G (p.Thr488Ala) single nucleotide variant Cardiomyopathy [RCV001524885] Chr18:31080154 [GRCh38]
Chr18:28660120 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1926A>G (p.Pro642=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001434270]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006994] Chr18:31071804 [GRCh38]
Chr18:28651770 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1596C>T (p.Ser532=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001429180]|Cardiovascular phenotype [RCV002405003]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006973] Chr18:31079914 [GRCh38]
Chr18:28659880 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.834A>G (p.Thr278=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001431680] Chr18:31086684 [GRCh38]
Chr18:28666647 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1966C>T (p.Leu656Phe) single nucleotide variant Cardiomyopathy [RCV001525364] Chr18:31071764 [GRCh38]
Chr18:28651730 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.860A>G (p.Gln287Arg) single nucleotide variant Cardiomyopathy [RCV001525380]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808087] Chr18:31086658 [GRCh38]
Chr18:28666621 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1317T>C (p.Asn439=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001472242]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808063] Chr18:31080299 [GRCh38]
Chr18:28660265 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.69+8T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001493112] Chr18:31101895 [GRCh38]
Chr18:28681858 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.10:g.31103416C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001523093]|DSC2-related disorder [RCV003966143]|not provided [RCV003312005] Chr18:31103416 [GRCh38]
Chr18:28683379 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.778A>G (p.Thr260Ala) single nucleotide variant Cardiomyopathy [RCV001526006] Chr18:31086740 [GRCh38]
Chr18:28666703 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1735A>G (p.Lys579Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005094675]|Cardiomyopathy [RCV001523974] Chr18:31074836 [GRCh38]
Chr18:28654802 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001418484]|Cardiomyopathy [RCV001524963]|Cardiovascular phenotype [RCV003298703]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004006948]|not provided [RCV001720285] Chr18:31079857 [GRCh38]
Chr18:28659823 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.776-13dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001446060]|Cardiomyopathy [RCV001524155] Chr18:31086751..31086752 [GRCh38]
Chr18:28666714..28666715 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.729del (p.Phe243fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001380340] Chr18:31087715 [GRCh38]
Chr18:28667678 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.110_114del (p.Leu37fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001388180] Chr18:31093599..31093603 [GRCh38]
Chr18:28673562..28673566 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.354+10G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001401242] Chr18:31092091 [GRCh38]
Chr18:28672054 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.189A>G (p.Leu63=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001437918] Chr18:31092266 [GRCh38]
Chr18:28672229 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.693C>A (p.Ile231=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001439253] Chr18:31087751 [GRCh38]
Chr18:28667714 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.687A>G (p.Leu229=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001445719]|Cardiomyopathy [RCV001524140]|Cardiovascular phenotype [RCV003160796]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007039] Chr18:31087757 [GRCh38]
Chr18:28667720 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.631-10C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001472531]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808064] Chr18:31087823 [GRCh38]
Chr18:28667786 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.441C>T (p.Asn147=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001475857]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808066] Chr18:31091061 [GRCh38]
Chr18:28671024 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.70-8dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001515927]|Cardiomyopathy [RCV001806215]|Cardiovascular phenotype [RCV004616749] Chr18:31093645..31093646 [GRCh38]
Chr18:28673608..28673609 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_004949.3(DSC2):c.942+13dup duplication not provided [RCV001609108] Chr18:28666525..28666526 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.2684_2685insG (p.Glu896fs) insertion not provided [RCV001671433] Chr18:31068036..31068037 [GRCh38]
Chr18:28648002..28648003 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1548G>T (p.Gly516=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517342]|not provided [RCV001724410]|not specified [RCV001700655] Chr18:31079962 [GRCh38]
Chr18:28659928 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.2251-27C>A single nucleotide variant not provided [RCV001724413]|not specified [RCV001702280] Chr18:31069178 [GRCh38]
Chr18:28649144 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.914C>T (p.Thr305Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005094673]|Cardiomyopathy [RCV001523962]|Cardiovascular phenotype [RCV003161050] Chr18:31086604 [GRCh38]
Chr18:28666567 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1179T>C (p.Tyr393=) single nucleotide variant Cardiomyopathy [RCV001524138] Chr18:31082322 [GRCh38]
Chr18:28662288 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.160C>T (p.Leu54=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001488962]|Cardiovascular phenotype [RCV002396167]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007170] Chr18:31092295 [GRCh38]
Chr18:28672258 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.71T>A (p.Ile24Asn) single nucleotide variant Cardiomyopathy [RCV001524360] Chr18:31093642 [GRCh38]
Chr18:28673605 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1866G>A (p.Met622Ile) single nucleotide variant Cardiomyopathy [RCV001524463] Chr18:31074705 [GRCh38]
Chr18:28654671 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.354+9G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001453728] Chr18:31092092 [GRCh38]
Chr18:28672055 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.412G>T (p.Ala138Ser) single nucleotide variant Cardiomyopathy [RCV001526278]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808101] Chr18:31091090 [GRCh38]
Chr18:28671053 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2013C>T (p.Cys671=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001442164]|Cardiovascular phenotype [RCV004038400]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007022] Chr18:31071717 [GRCh38]
Chr18:28651683 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.216A>G (p.Gln72=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003771607]|Cardiomyopathy [RCV001525698] Chr18:31092239 [GRCh38]
Chr18:28672202 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.540A>G (p.Gln180=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001458104]|Cardiovascular phenotype [RCV002350927] Chr18:31089529 [GRCh38]
Chr18:28669492 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+8_1263+10del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001496083] Chr18:31082228..31082230 [GRCh38]
Chr18:28662194..28662196 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.60G>A (p.Leu20=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002568112]|Cardiomyopathy [RCV001525879]|Cardiovascular phenotype [RCV003161059]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008881] Chr18:31101912 [GRCh38]
Chr18:28681875 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1830T>C (p.Phe610=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001460584]|Cardiovascular phenotype [RCV002414102] Chr18:31074741 [GRCh38]
Chr18:28654707 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.324A>G (p.Lys108=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001496197]|Cardiomyopathy [RCV003532998]|Cardiovascular phenotype [RCV004037361]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007195] Chr18:31092131 [GRCh38]
Chr18:28672094 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.449G>A (p.Gly150Asp) single nucleotide variant Cardiomyopathy [RCV001526054] Chr18:31091053 [GRCh38]
Chr18:28671016 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1536T>A (p.Thr512=) single nucleotide variant Cardiomyopathy [RCV001526087] Chr18:31079974 [GRCh38]
Chr18:28659940 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001873691]|Cardiomyopathy [RCV001526145] Chr18:31087710 [GRCh38]
Chr18:28667673 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.33C>T (p.Asn11=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001455813] Chr18:31101939 [GRCh38]
Chr18:28681902 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+5G>A single nucleotide variant Cardiomyopathy [RCV001523857] Chr18:31082233 [GRCh38]
Chr18:28662199 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1810C>A (p.His604Asn) single nucleotide variant Cardiomyopathy [RCV001523907] Chr18:31074761 [GRCh38]
Chr18:28654727 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.474+1G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001378713] Chr18:31091027 [GRCh38]
Chr18:28670990 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002568773]|Cardiomyopathy [RCV001524055] Chr18:31071634 [GRCh38]
Chr18:28651600 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.945A>G (p.Leu315=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001483646] Chr18:31083058 [GRCh38]
Chr18:28663024 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1833T>C (p.Ser611=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001400731] Chr18:31074738 [GRCh38]
Chr18:28654704 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2073A>G (p.Gln691=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001404809]|Cardiomyopathy [RCV001524501] Chr18:31071657 [GRCh38]
Chr18:28651623 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.105G>A (p.Val35=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001441440]|Cardiovascular phenotype [RCV003160776] Chr18:31093608 [GRCh38]
Chr18:28673571 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1122_1123insAA (p.Arg375fs) insertion Cardiomyopathy [RCV001524636] Chr18:31082378..31082379 [GRCh38]
Chr18:28662344..28662345 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2669A>G (p.Lys890Arg) single nucleotide variant Cardiomyopathy [RCV001524764] Chr18:31068052 [GRCh38]
Chr18:28648018 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1077+233C>T single nucleotide variant not provided [RCV001536665] Chr18:31082693 [GRCh38]
Chr18:28662659 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2530G>C (p.Asp844His) single nucleotide variant Cardiomyopathy [RCV001524776] Chr18:31068191 [GRCh38]
Chr18:28648157 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2312C>A (p.Thr771Asn) single nucleotide variant Cardiomyopathy [RCV001524896] Chr18:31069090 [GRCh38]
Chr18:28649056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1339G>A (p.Ala447Thr) single nucleotide variant Cardiomyopathy [RCV001524960]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008811] Chr18:31080277 [GRCh38]
Chr18:28660243 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.354+6C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005094687]|Cardiomyopathy [RCV001524981]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008813] Chr18:31092095 [GRCh38]
Chr18:28672058 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.354+9G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001424507] Chr18:31092092 [GRCh38]
Chr18:28672055 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1412G>A (p.Cys471Tyr) single nucleotide variant Cardiomyopathy [RCV001525008] Chr18:31080204 [GRCh38]
Chr18:28660170 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.164A>T (p.Lys55Ile) single nucleotide variant not provided [RCV001754889] Chr18:31092291 [GRCh38]
Chr18:28672254 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV002260443]|Cardiovascular phenotype [RCV002427739] Chr18:31070838 [GRCh38]
Chr18:28650804 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.859C>T (p.Gln287Ter) single nucleotide variant DSC2-related disorder [RCV005250509] Chr18:31086659 [GRCh38]
Chr18:28666622 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.647_654del (p.Thr216fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV005250435] Chr18:31087790..31087797 [GRCh38]
Chr18:28667753..28667760 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517345]|Cardiovascular phenotype [RCV002405305]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009017]|not provided [RCV001761109] Chr18:31079933 [GRCh38]
Chr18:28659899 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2219C>A (p.Ser740Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV004795538] Chr18:31070757 [GRCh38]
Chr18:28650723 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.38C>T (p.Ala13Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002538832]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808113]|not provided [RCV001763226] Chr18:31101934 [GRCh38]
Chr18:28681897 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.880del (p.Leu294fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV002496059]|not provided [RCV001732935] Chr18:31086638 [GRCh38]
Chr18:28666601 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1112_1113del (p.Val371fs) microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV001783147] Chr18:31082388..31082389 [GRCh38]
Chr18:28662354..28662355 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.69+1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001783144]|Cardiomyopathy [RCV001806261]|not provided [RCV004720936] Chr18:31101902 [GRCh38]
Chr18:28681865 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001783146]|Cardiovascular phenotype [RCV002414342] Chr18:31074713 [GRCh38]
Chr18:28654679 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.341del (p.Glu114fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001783149] Chr18:31092114 [GRCh38]
Chr18:28672077 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2251-3C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV002260444] Chr18:31069154 [GRCh38]
Chr18:28649120 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.572A>G (p.Asp191Gly) single nucleotide variant not provided [RCV001758738] Chr18:31089497 [GRCh38]
Chr18:28669460 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.800C>G (p.Ala267Gly) single nucleotide variant not provided [RCV001763816] Chr18:31086718 [GRCh38]
Chr18:28666681 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001771794] Chr18:31087759 [GRCh38]
Chr18:28667722 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1823_1828delinsATGACC (p.Phe608_Phe610delinsTyrAspLeu) indel not provided [RCV001767301] Chr18:31074743..31074748 [GRCh38]
Chr18:28654709..28654714 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1976C>T (p.Ser659Phe) single nucleotide variant Long QT syndrome [RCV003318438] Chr18:31071754 [GRCh38]
Chr18:28651720 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.296_297insA (p.Asn100fs) insertion Arrhythmogenic right ventricular dysplasia 11 [RCV001783150] Chr18:31092158..31092159 [GRCh38]
Chr18:28672121..28672122 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002034489]|not provided [RCV001763244] Chr18:31091036 [GRCh38]
Chr18:28670999 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2549C>G (p.Ala850Gly) single nucleotide variant not provided [RCV001767636] Chr18:31068172 [GRCh38]
Chr18:28648138 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002032837]|not provided [RCV001770582] Chr18:31074821 [GRCh38]
Chr18:28654787 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003771947]|Cardiomyopathy [RCV003533019]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808112]|not provided [RCV001766866] Chr18:31082262 [GRCh38]
Chr18:28662228 [GRCh37]
Chr18:18q12.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_024422.6(DSC2):c.1206C>A (p.Gly402=) single nucleotide variant Cardiomyopathy [RCV001799363]|Cardiovascular phenotype [RCV002343858] Chr18:31082295 [GRCh38]
Chr18:28662261 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.687AAT[1] (p.Ile231del) microsatellite Cardiomyopathy [RCV001799364] Chr18:31087752..31087754 [GRCh38]
Chr18:28667715..28667717 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001868466]|not provided [RCV001757170] Chr18:31087729 [GRCh38]
Chr18:28667692 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1767G>A (p.Met589Ile) single nucleotide variant Cardiomyopathy [RCV001804607] Chr18:31074804 [GRCh38]
Chr18:28654770 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.942+4A>T single nucleotide variant Cardiomyopathy [RCV001804627] Chr18:31086572 [GRCh38]
Chr18:28666535 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.70A>G (p.Ile24Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002541430]|Cardiomyopathy [RCV001805399]|Cardiovascular phenotype [RCV004996015] Chr18:31093643 [GRCh38]
Chr18:28673606 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.367A>G (p.Arg123Gly) single nucleotide variant Cardiomyopathy [RCV001805472] Chr18:31091135 [GRCh38]
Chr18:28671098 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2646A>G (p.Glu882=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002077256]|Cardiomyopathy [RCV001805591] Chr18:31068075 [GRCh38]
Chr18:28648041 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1232A>G (p.Lys411Arg) single nucleotide variant Cardiomyopathy [RCV001805514] Chr18:31082269 [GRCh38]
Chr18:28662235 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001869560]|Cardiomyopathy [RCV001805685]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009155] Chr18:31071692 [GRCh38]
Chr18:28651658 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631226]|Cardiomyopathy [RCV001804585]|not provided [RCV004728826] Chr18:31080198 [GRCh38]
Chr18:28660164 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1040A>G (p.Asp347Gly) single nucleotide variant Cardiomyopathy [RCV001804554]|DSC2-related disorder [RCV004728825] Chr18:31082963 [GRCh38]
Chr18:28662929 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg) single nucleotide variant Cardiomyopathy [RCV001805501]|Cardiovascular phenotype [RCV002425080] Chr18:31068029 [GRCh38]
Chr18:28647995 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.948T>C (p.Ile316=) single nucleotide variant Cardiomyopathy [RCV001805408] Chr18:31083055 [GRCh38]
Chr18:28663021 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2620G>A (p.Glu874Lys) single nucleotide variant Cardiomyopathy [RCV001805492] Chr18:31068101 [GRCh38]
Chr18:28648067 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.121T>C (p.Ser41Pro) single nucleotide variant Cardiomyopathy [RCV001805556] Chr18:31093592 [GRCh38]
Chr18:28673555 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del) microsatellite Cardiomyopathy [RCV001805691] Chr18:31068085..31068087 [GRCh38]
Chr18:28648051..28648053 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1681G>C (p.Gly561Arg) single nucleotide variant Cardiomyopathy [RCV001804427] Chr18:31074890 [GRCh38]
Chr18:28654856 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.587A>G (p.Tyr196Cys) single nucleotide variant Cardiomyopathy [RCV001804529] Chr18:31089482 [GRCh38]
Chr18:28669445 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1594A>G (p.Ser532Gly) single nucleotide variant Cardiomyopathy [RCV001805277] Chr18:31079916 [GRCh38]
Chr18:28659882 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2532T>C (p.Asp844=) single nucleotide variant Cardiomyopathy [RCV001804602] Chr18:31068189 [GRCh38]
Chr18:28648155 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2046T>A (p.Asp682Glu) single nucleotide variant Cardiomyopathy [RCV001805363] Chr18:31071684 [GRCh38]
Chr18:28651650 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001885281]|Cardiomyopathy [RCV001805616] Chr18:31087779 [GRCh38]
Chr18:28667742 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1932dup (p.Ser645fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001895751]|Cardiovascular phenotype [RCV004996068]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010760] Chr18:31071797..31071798 [GRCh38]
Chr18:28651763..28651764 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_024422.6(DSC2):c.2379del (p.Ser794fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001895962] Chr18:31069023 [GRCh38]
Chr18:28648989 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1027A>G (p.Ile343Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002020785] Chr18:31082976 [GRCh38]
Chr18:28662942 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001912709]|Cardiomyopathy [RCV003533050] Chr18:31092154 [GRCh38]
Chr18:28672117 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.355-12T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002024867] Chr18:31091159 [GRCh38]
Chr18:28671122 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.488C>A (p.Thr163Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001987326] Chr18:31089581 [GRCh38]
Chr18:28669544 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002023527] Chr18:31068057 [GRCh38]
Chr18:28648023 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1676G>A (p.Cys559Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002043458] Chr18:31074895 [GRCh38]
Chr18:28654861 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1264-18A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001928679] Chr18:31080370 [GRCh38]
Chr18:28660336 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1023dup (p.Ile342fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001950141] Chr18:31082979..31082980 [GRCh38]
Chr18:28662945..28662946 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.942+5C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002025157] Chr18:31086571 [GRCh38]
Chr18:28666534 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.656A>T (p.Asp219Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001896668] Chr18:31087788 [GRCh38]
Chr18:28667751 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001890721]|Cardiovascular phenotype [RCV003303287] Chr18:31071824 [GRCh38]
Chr18:28651790 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001984765]|Cardiovascular phenotype [RCV003303451]|not provided [RCV002307798] Chr18:31074904 [GRCh38]
Chr18:28654870 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.943T>C (p.Leu315=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001908129] Chr18:31083060 [GRCh38]
Chr18:28663026 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002003525] Chr18:31068176 [GRCh38]
Chr18:28648142 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_024422.6(DSC2):c.2234C>T (p.Pro745Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001946109] Chr18:31070742 [GRCh38]
Chr18:28650708 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001909689]|Cardiovascular phenotype [RCV002331438]|not specified [RCV002307791] Chr18:31091077 [GRCh38]
Chr18:28671040 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1120T>G (p.Leu374Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001910343] Chr18:31082381 [GRCh38]
Chr18:28662347 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2667C>T (p.Pro889=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805922] Chr18:31068054 [GRCh38]
Chr18:28648020 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2520G>C (p.Leu840=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805925] Chr18:31068201 [GRCh38]
Chr18:28648167 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1642dup (p.Thr548fs) duplication Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805938] Chr18:31079867..31079868 [GRCh38]
Chr18:28659833..28659834 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1052A>G (p.His351Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805953] Chr18:31082951 [GRCh38]
Chr18:28662917 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.627del (p.Phe209fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805960] Chr18:31089442 [GRCh38]
Chr18:28669405 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.154+2T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002021211] Chr18:31093557 [GRCh38]
Chr18:28673520 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002545189]|not provided [RCV001823351] Chr18:31101942 [GRCh38]
Chr18:28681905 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001928725]|Cardiovascular phenotype [RCV002425260]|not provided [RCV003120756] Chr18:31068079 [GRCh38]
Chr18:28648045 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1812T>A (p.His604Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001914192] Chr18:31074759 [GRCh38]
Chr18:28654725 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1647C>T (p.Val549=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631229]|not specified [RCV001823810] Chr18:31079863 [GRCh38]
Chr18:28659829 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs) microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV001970075] Chr18:31074729..31074730 [GRCh38]
Chr18:28654695..28654696 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.193C>G (p.His65Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002039714]|Cardiovascular phenotype [RCV004038869] Chr18:31092262 [GRCh38]
Chr18:28672225 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001965634]|Cardiovascular phenotype [RCV004044419]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010989]|not provided [RCV003481222] Chr18:31068927 [GRCh38]
Chr18:28648893 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.721C>G (p.Pro241Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001870782] Chr18:31087723 [GRCh38]
Chr18:28667686 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2251-4T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002003607] Chr18:31069155 [GRCh38]
Chr18:28649121 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.19T>C (p.Ser7Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001986151] Chr18:31101953 [GRCh38]
Chr18:28681916 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1238A>G (p.Asn413Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002006738]|Cardiovascular phenotype [RCV004046178]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011123] Chr18:31082263 [GRCh38]
Chr18:28662229 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1730T>C (p.Ile577Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001912560]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808151] Chr18:31074841 [GRCh38]
Chr18:28654807 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:28651723-28714827) copy number loss not specified [RCV002052628] Chr18:28651723..28714827 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2152del (p.Ala718fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001823031]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009162] Chr18:31070824 [GRCh38]
Chr18:28650790 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002001205]|Cardiovascular phenotype [RCV002407243]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011065] Chr18:31086677 [GRCh38]
Chr18:28666640 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2529A>C (p.Gln843His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001980627] Chr18:31068192 [GRCh38]
Chr18:28648158 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1264-1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001999444] Chr18:31080353 [GRCh38]
Chr18:28660319 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NC_000018.9:g.(?_28647961)_(28681954_?)dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001943187] Chr18:28647961..28681954 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.621A>C (p.Glu207Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001944584] Chr18:31089448 [GRCh38]
Chr18:28669411 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2136dup (p.Thr713fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV001886532] Chr18:31070839..31070840 [GRCh38]
Chr18:28650805..28650806 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001903730]|Cardiovascular phenotype [RCV003382711]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010836] Chr18:31082377 [GRCh38]
Chr18:28662343 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV002260408]|Arrhythmogenic right ventricular dysplasia 11 [RCV002018544] Chr18:31087731 [GRCh38]
Chr18:28667694 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2451C>A (p.Asp817Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001886844] Chr18:31068951 [GRCh38]
Chr18:28648917 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2100_2102dup (p.Leu702dup) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002000508] Chr18:31071627..31071628 [GRCh38]
Chr18:28651593..28651594 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1765A>G (p.Met589Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001961678] Chr18:31074806 [GRCh38]
Chr18:28654772 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1741A>C (p.Thr581Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001888217]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009252] Chr18:31074830 [GRCh38]
Chr18:28654796 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+18C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001999952] Chr18:31101885 [GRCh38]
Chr18:28681848 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2126-11_2126-8del microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV001925585] Chr18:31070858..31070861 [GRCh38]
Chr18:28650824..28650827 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.106A>G (p.Thr36Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001887928] Chr18:31093607 [GRCh38]
Chr18:28673570 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1066A>T (p.Thr356Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001884110] Chr18:31082937 [GRCh38]
Chr18:28662903 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2250+1G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001995527] Chr18:31070725 [GRCh38]
Chr18:28650691 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001992366]|Cardiomyopathy [RCV003533073]|Cardiovascular phenotype [RCV002386791] Chr18:31082979 [GRCh38]
Chr18:28662945 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2570_2574del (p.Tyr857fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001900630] Chr18:31068147..31068151 [GRCh38]
Chr18:28648113..28648117 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1053_1059del (p.His351fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001903737] Chr18:31082944..31082950 [GRCh38]
Chr18:28662910..28662916 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.848C>G (p.Ser283Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001903783] Chr18:31086670 [GRCh38]
Chr18:28666633 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001882297]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808149] Chr18:31089532 [GRCh38]
Chr18:28669495 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2294C>T (p.Ala765Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001880590] Chr18:31069108 [GRCh38]
Chr18:28649074 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1054T>A (p.Leu352Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001881687]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808145] Chr18:31082949 [GRCh38]
Chr18:28662915 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2597_2600del (p.Ala866fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001976780] Chr18:31068121..31068124 [GRCh38]
Chr18:28648087..28648090 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2666C>A (p.Pro889His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001988907] Chr18:31068055 [GRCh38]
Chr18:28648021 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1470C>G (p.Ser490Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001880720] Chr18:31080146 [GRCh38]
Chr18:28660112 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001993141]|Cardiovascular phenotype [RCV004996152] Chr18:31071646 [GRCh38]
Chr18:28651612 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002026265]|Cardiovascular phenotype [RCV002398108] Chr18:31074856 [GRCh38]
Chr18:28654822 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.841A>C (p.Lys281Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001955181] Chr18:31086677 [GRCh38]
Chr18:28666640 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2497C>G (p.Arg833Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001956703]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010999] Chr18:31068905 [GRCh38]
Chr18:28648871 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.17C>T (p.Pro6Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002028838] Chr18:31101955 [GRCh38]
Chr18:28681918 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001920082]|Cardiovascular phenotype [RCV002388789]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010803] Chr18:31080192 [GRCh38]
Chr18:28660158 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1102A>G (p.Thr368Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002033175] Chr18:31082399 [GRCh38]
Chr18:28662365 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.114T>A (p.His38Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001898822] Chr18:31093599 [GRCh38]
Chr18:28673562 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.216A>C (p.Gln72His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001961412]|Cardiovascular phenotype [RCV002425344] Chr18:31092239 [GRCh38]
Chr18:28672202 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2359G>A (p.Val787Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001921391]|Cardiomyopathy [RCV003533060]|Cardiovascular phenotype [RCV002442875] Chr18:31069043 [GRCh38]
Chr18:28649009 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1924C>G (p.Pro642Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001997612]|Cardiovascular phenotype [RCV004043927] Chr18:31071806 [GRCh38]
Chr18:28651772 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.575C>T (p.Thr192Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001883301] Chr18:31089494 [GRCh38]
Chr18:28669457 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.397G>C (p.Ala133Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002014476] Chr18:31091105 [GRCh38]
Chr18:28671068 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.643G>A (p.Ala215Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001939212] Chr18:31087801 [GRCh38]
Chr18:28667764 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.222G>T (p.Leu74Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001994120] Chr18:31092233 [GRCh38]
Chr18:28672196 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.478C>A (p.Gln160Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002030035]|Cardiovascular phenotype [RCV004038743]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009172] Chr18:31089591 [GRCh38]
Chr18:28669554 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002029108] Chr18:31074826 [GRCh38]
Chr18:28654792 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.590G>T (p.Cys197Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001881961] Chr18:31089479 [GRCh38]
Chr18:28669442 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV001904439] Chr18:31074838..31074851 [GRCh38]
Chr18:28654804..28654817 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1678A>G (p.Thr560Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001901514]|not provided [RCV004774526] Chr18:31074893 [GRCh38]
Chr18:28654859 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2444A>G (p.Glu815Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001982262] Chr18:31068958 [GRCh38]
Chr18:28648924 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001952013]|Cardiomyopathy [RCV003533057]|Cardiovascular phenotype [RCV004043611]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010885] Chr18:31074788 [GRCh38]
Chr18:28654754 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1521-18A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001932331] Chr18:31080007 [GRCh38]
Chr18:28659973 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.142C>G (p.Leu48Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002012410] Chr18:31093571 [GRCh38]
Chr18:28673534 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1405C>T (p.Pro469Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001881710] Chr18:31080211 [GRCh38]
Chr18:28660177 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1520+6T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001898754]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010825] Chr18:31080090 [GRCh38]
Chr18:28660056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1837G>C (p.Glu613Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001952648] Chr18:31074734 [GRCh38]
Chr18:28654700 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.630+15G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002130588] Chr18:31089424 [GRCh38]
Chr18:28669387 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.180T>A (p.Ala60=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002085156] Chr18:31092275 [GRCh38]
Chr18:28672238 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-15T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002205874] Chr18:31068227 [GRCh38]
Chr18:28648193 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2289T>C (p.Ala763=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002166548] Chr18:31069113 [GRCh38]
Chr18:28649079 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2640G>A (p.Gly880=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002089061] Chr18:31068081 [GRCh38]
Chr18:28648047 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1038T>C (p.Asp346=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002209938] Chr18:31082965 [GRCh38]
Chr18:28662931 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2592G>A (p.Ser864=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002165907] Chr18:31068129 [GRCh38]
Chr18:28648095 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2271A>G (p.Thr757=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002169186] Chr18:31069131 [GRCh38]
Chr18:28649097 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.27C>T (p.Ser9=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002168996]|Cardiovascular phenotype [RCV004990726]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005499] Chr18:31101945 [GRCh38]
Chr18:28681908 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2160G>C (p.Gly720=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002148170] Chr18:31070816 [GRCh38]
Chr18:28650782 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2469C>T (p.Tyr823=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002112327] Chr18:31068933 [GRCh38]
Chr18:28648899 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.355-1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003089185]|not provided [RCV002224716] Chr18:31091148 [GRCh38]
Chr18:28671111 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.355-18C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002148035] Chr18:31091165 [GRCh38]
Chr18:28671128 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1264-15C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002209907] Chr18:31080367 [GRCh38]
Chr18:28660333 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.915C>T (p.Thr305=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002214881] Chr18:31086603 [GRCh38]
Chr18:28666566 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2382G>C (p.Ser794=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002132766] Chr18:31069020 [GRCh38]
Chr18:28648986 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.255T>A (p.Ile85=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002109508]|Cardiovascular phenotype [RCV002427642] Chr18:31092200 [GRCh38]
Chr18:28672163 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.337T>C (p.Leu113=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002151679] Chr18:31092118 [GRCh38]
Chr18:28672081 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.66C>T (p.Leu22=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002148183] Chr18:31101906 [GRCh38]
Chr18:28681869 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.943-9dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002132072]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005396] Chr18:31083068..31083069 [GRCh38]
Chr18:28663034..28663035 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.630+8C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002092271] Chr18:31089431 [GRCh38]
Chr18:28669394 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.879C>A (p.Thr293=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002096020]|Cardiovascular phenotype [RCV003161485] Chr18:31086639 [GRCh38]
Chr18:28666602 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.555A>G (p.Leu185=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002165692]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011212] Chr18:31089514 [GRCh38]
Chr18:28669477 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630+19G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002094721] Chr18:31089420 [GRCh38]
Chr18:28669383 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2125+18T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002151856] Chr18:31071587 [GRCh38]
Chr18:28651553 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.990T>G (p.Gly330=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002214862] Chr18:31083013 [GRCh38]
Chr18:28662979 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.474+9T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002113614] Chr18:31091019 [GRCh38]
Chr18:28670982 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.549G>C (p.Arg183=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002093766] Chr18:31089520 [GRCh38]
Chr18:28669483 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-11C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002132633]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005449] Chr18:31068223 [GRCh38]
Chr18:28648189 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1728C>T (p.Phe576=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002189208]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808229] Chr18:31074843 [GRCh38]
Chr18:28654809 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.154+9G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002151412]|DSC2-related disorder [RCV003895977] Chr18:31093550 [GRCh38]
Chr18:28673513 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2562C>T (p.Val854=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002092298] Chr18:31068159 [GRCh38]
Chr18:28648125 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630+10A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002076977] Chr18:31089429 [GRCh38]
Chr18:28669392 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.69+7G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002101664] Chr18:31101896 [GRCh38]
Chr18:28681859 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.684C>A (p.Pro228=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002154269] Chr18:31087760 [GRCh38]
Chr18:28667723 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.264C>T (p.Ser88=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002198912] Chr18:31092191 [GRCh38]
Chr18:28672154 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1110T>C (p.Asp370=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002142627] Chr18:31082391 [GRCh38]
Chr18:28662357 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1077+15T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002136072]|not specified [RCV004690256] Chr18:31082911 [GRCh38]
Chr18:28662877 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-8C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002202772] Chr18:31068220 [GRCh38]
Chr18:28648186 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+10A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002202804] Chr18:31082228 [GRCh38]
Chr18:28662194 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) microsatellite Arrhythmogenic right ventricular cardiomyopathy [RCV002260447] Chr18:31089566..31089567 [GRCh38]
Chr18:28669529..28669530 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1920dup (p.Pro641fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002251694] Chr18:31071809..31071810 [GRCh38]
Chr18:28651775..28651776 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.475-4C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002083351] Chr18:31089598 [GRCh38]
Chr18:28669561 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+22C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002157830] Chr18:31086554 [GRCh38]
Chr18:28666520 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630+19G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002122961] Chr18:31089420 [GRCh38]
Chr18:28669383 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_024422.6(DSC2):c.1323T>G (p.Ala441=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002154268]|Cardiovascular phenotype [RCV003161646] Chr18:31080293 [GRCh38]
Chr18:28660259 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.630+13del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV002117997] Chr18:31089426 [GRCh38]
Chr18:28669389 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1260T>C (p.Val420=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002200187] Chr18:31082241 [GRCh38]
Chr18:28662207 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.435A>G (p.Leu145=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002182995]|not specified [RCV005238209] Chr18:31091067 [GRCh38]
Chr18:28671030 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2256T>C (p.Ser752=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002098568]|Cardiomyopathy [RCV003533117]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005363] Chr18:31069146 [GRCh38]
Chr18:28649112 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+14_942+15insTTG insertion Arrhythmogenic right ventricular dysplasia 11 [RCV002120240] Chr18:31086561..31086562 [GRCh38]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.741T>G (p.Thr247=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002141107] Chr18:31087703 [GRCh38]
Chr18:28667666 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.69+12C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002143379] Chr18:31101891 [GRCh38]
Chr18:28681854 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1134T>C (p.Val378=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002199334]|Cardiomyopathy [RCV003533101]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011226] Chr18:31082367 [GRCh38]
Chr18:28662333 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1230C>T (p.Ala410=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002141287] Chr18:31082271 [GRCh38]
Chr18:28662237 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1078-7A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002183729] Chr18:31082430 [GRCh38]
Chr18:28662396 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1410G>A (p.Glu470=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002082310] Chr18:31080206 [GRCh38]
Chr18:28660172 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2126-4C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002084281] Chr18:31070854 [GRCh38]
Chr18:28650820 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003110322] Chr18:31082314 [GRCh38]
Chr18:28662280 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003112372]|Cardiomyopathy [RCV003533812] Chr18:31071838 [GRCh38]
Chr18:28651804 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.155-17G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003117183] Chr18:31092317 [GRCh38]
Chr18:28672280 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.9:g.(?_28681846)_(28681934_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003122653] Chr18:28681846..28681934 [GRCh37]
Chr18:18q12.1		 pathogenic
NC_000018.9:g.(?_28673522)_(28673606_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003122654] Chr18:28673522..28673606 [GRCh37]
Chr18:18q12.1		 pathogenic
NC_000018.9:g.(?_28647981)_(28681934_?)dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV003122655] Chr18:28647981..28681934 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1672A>G (p.Thr558Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005105106]|not provided [RCV004790708] Chr18:31074899 [GRCh38]
Chr18:28654865 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV002260438] Chr18:31079933 [GRCh38]
Chr18:28659899 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2432del (p.Gly811fs) deletion Cardiovascular phenotype [RCV003297438] Chr18:31068970 [GRCh38]
Chr18:28648936 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1239del (p.Asn413fs) deletion not provided [RCV002263119] Chr18:31082262 [GRCh38]
Chr18:28662228 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.83C>A (p.Ala28Asp) single nucleotide variant Cardiovascular phenotype [RCV002434895] Chr18:31093630 [GRCh38]
Chr18:28673593 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.36A>T (p.Gly12=) single nucleotide variant Cardiovascular phenotype [RCV002348893] Chr18:31101936 [GRCh38]
Chr18:28681899 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1070G>T (p.Arg357Leu) single nucleotide variant Cardiovascular phenotype [RCV002421651] Chr18:31082933 [GRCh38]
Chr18:28662899 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1335A>C (p.Arg445Ser) single nucleotide variant Cardiovascular phenotype [RCV002387567] Chr18:31080281 [GRCh38]
Chr18:28660247 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2588G>T (p.Gly863Val) single nucleotide variant Cardiovascular phenotype [RCV002452874] Chr18:31068133 [GRCh38]
Chr18:28648099 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.960G>C (p.Gln320His) single nucleotide variant Cardiovascular phenotype [RCV002385318] Chr18:31083043 [GRCh38]
Chr18:28663009 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:28628215-28683174)x1 copy number loss not provided [RCV002474716] Chr18:28628215..28683174 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2285G>A (p.Gly762Asp) single nucleotide variant Cardiovascular phenotype [RCV004113683] Chr18:31069117 [GRCh38]
Chr18:28649083 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln) single nucleotide variant Cardiovascular phenotype [RCV002417813] Chr18:31070844 [GRCh38]
Chr18:28650810 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1083G>A (p.Val361=) single nucleotide variant Cardiovascular phenotype [RCV002417936] Chr18:31082418 [GRCh38]
Chr18:28662384 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003096816]|Cardiovascular phenotype [RCV002345028] Chr18:31082296 [GRCh38]
Chr18:28662262 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.150T>C (p.Gly50=) single nucleotide variant Cardiovascular phenotype [RCV002392184] Chr18:31093563 [GRCh38]
Chr18:28673526 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2125+1G>A single nucleotide variant Cardiovascular phenotype [RCV002417680] Chr18:31071604 [GRCh38]
Chr18:28651570 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.68C>T (p.Ala23Val) single nucleotide variant Cardiovascular phenotype [RCV002378051] Chr18:31101904 [GRCh38]
Chr18:28681867 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005058790]|Cardiovascular phenotype [RCV002459892]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808340] Chr18:31068971 [GRCh38]
Chr18:28648937 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys) single nucleotide variant Cardiomyopathy [RCV003533258]|Cardiovascular phenotype [RCV002430726]|not provided [RCV003228083] Chr18:31092210 [GRCh38]
Chr18:28672173 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.571_572dup (p.Asp191fs) microsatellite Cardiovascular phenotype [RCV002347635] Chr18:31089496..31089497 [GRCh38]
Chr18:28669459..28669460 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.968T>C (p.Ile323Thr) single nucleotide variant Cardiovascular phenotype [RCV002376583] Chr18:31083035 [GRCh38]
Chr18:28663001 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.310C>A (p.Gln104Lys) single nucleotide variant Cardiovascular phenotype [RCV002326065] Chr18:31092145 [GRCh38]
Chr18:28672108 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003775432]|Cardiovascular phenotype [RCV002442073] Chr18:31092159 [GRCh38]
Chr18:28672122 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2412C>T (p.His804=) single nucleotide variant Cardiovascular phenotype [RCV002450346]|not specified [RCV003994435] Chr18:31068990 [GRCh38]
Chr18:28648956 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1565A>C (p.Glu522Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002294870] Chr18:31079945 [GRCh38]
Chr18:28659911 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005097751]|Cardiovascular phenotype [RCV002404014]|not provided [RCV005058693] Chr18:31074794 [GRCh38]
Chr18:28654760 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.587_597del (p.Tyr196fs) deletion Cardiovascular phenotype [RCV002353461] Chr18:31089472..31089482 [GRCh38]
Chr18:28669435..28669445 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.248A>G (p.Asn83Ser) single nucleotide variant Cardiovascular phenotype [RCV002430906]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808342] Chr18:31092207 [GRCh38]
Chr18:28672170 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.932T>C (p.Leu311Pro) single nucleotide variant Cardiovascular phenotype [RCV002371635] Chr18:31086586 [GRCh38]
Chr18:28666549 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.451C>A (p.Pro151Thr) single nucleotide variant Cardiovascular phenotype [RCV002339978] Chr18:31091051 [GRCh38]
Chr18:28671014 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.942+27T>C single nucleotide variant not provided [RCV002301063] Chr18:31086549 [GRCh38]
Chr18:28666515 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.860A>C (p.Gln287Pro) single nucleotide variant Cardiovascular phenotype [RCV002448010] Chr18:31086658 [GRCh38]
Chr18:28666621 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631268]|Cardiovascular phenotype [RCV002460033] Chr18:31068962 [GRCh38]
Chr18:28648928 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2548G>T (p.Ala850Ser) single nucleotide variant Cardiovascular phenotype [RCV002433276] Chr18:31068173 [GRCh38]
Chr18:28648139 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1896A>C (p.Ala632=) single nucleotide variant Cardiovascular phenotype [RCV002408104] Chr18:31071834 [GRCh38]
Chr18:28651800 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003101771]|Cardiovascular phenotype [RCV002457814] Chr18:31069027 [GRCh38]
Chr18:28648993 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs) indel Cardiovascular phenotype [RCV002340200] Chr18:31091044..31091046 [GRCh38]
Chr18:28671007..28671009 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2063G>A (p.Gly688Glu) single nucleotide variant Cardiovascular phenotype [RCV002422007] Chr18:31071667 [GRCh38]
Chr18:28651633 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1601A>T (p.Asp534Val) single nucleotide variant Cardiovascular phenotype [RCV002398703] Chr18:31079909 [GRCh38]
Chr18:28659875 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.503C>G (p.Thr168Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002294804] Chr18:31089566 [GRCh38]
Chr18:28669529 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2255C>T (p.Ser752Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005098029]|Cardiovascular phenotype [RCV002443616] Chr18:31069147 [GRCh38]
Chr18:28649113 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631266]|Cardiovascular phenotype [RCV002446006]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007414] Chr18:31069126 [GRCh38]
Chr18:28649092 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1301A>C (p.Gln434Pro) single nucleotide variant Cardiovascular phenotype [RCV002380850] Chr18:31080315 [GRCh38]
Chr18:28660281 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1675T>C (p.Cys559Arg) single nucleotide variant Cardiovascular phenotype [RCV002414509] Chr18:31074896 [GRCh38]
Chr18:28654862 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.863T>G (p.Val288Gly) single nucleotide variant Cardiovascular phenotype [RCV002371196] Chr18:31086655 [GRCh38]
Chr18:28666618 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2478G>C (p.Trp826Cys) single nucleotide variant Cardiovascular phenotype [RCV002443928] Chr18:31068924 [GRCh38]
Chr18:28648890 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1819C>T (p.Pro607Ser) single nucleotide variant Cardiovascular phenotype [RCV002410311]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007368] Chr18:31074752 [GRCh38]
Chr18:28654718 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.135C>G (p.Ala45=) single nucleotide variant Cardiovascular phenotype [RCV002383442] Chr18:31093578 [GRCh38]
Chr18:28673541 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1823T>A (p.Phe608Tyr) single nucleotide variant Cardiovascular phenotype [RCV002410396] Chr18:31074748 [GRCh38]
Chr18:28654714 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.45C>T (p.Cys15=) single nucleotide variant Cardiovascular phenotype [RCV002342356] Chr18:31101927 [GRCh38]
Chr18:28681890 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2477G>A (p.Trp826Ter) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV002308656] Chr18:31068925 [GRCh38]
Chr18:28648891 [GRCh37]
Chr18:18q12.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003099757]|Cardiovascular phenotype [RCV002412113]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808294] Chr18:31086736 [GRCh38]
Chr18:28666699 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.63C>T (p.Thr21=) single nucleotide variant Cardiovascular phenotype [RCV002354126]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005726] Chr18:31101909 [GRCh38]
Chr18:28681872 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1828T>C (p.Phe610Leu) single nucleotide variant Cardiovascular phenotype [RCV002410480] Chr18:31074743 [GRCh38]
Chr18:28654709 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1783G>T (p.Val595Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005097761]|Cardiovascular phenotype [RCV002404135] Chr18:31074788 [GRCh38]
Chr18:28654754 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2343G>A (p.Gln781=) single nucleotide variant Cardiovascular phenotype [RCV002448322] Chr18:31069059 [GRCh38]
Chr18:28649025 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2303T>C (p.Val768Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005098061]|Cardiovascular phenotype [RCV002428480] Chr18:31069099 [GRCh38]
Chr18:28649065 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517417]|Cardiovascular phenotype [RCV002398392] Chr18:31092297 [GRCh38]
Chr18:28672260 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1873C>G (p.Leu625Val) single nucleotide variant Cardiovascular phenotype [RCV002415145] Chr18:31074698 [GRCh38]
Chr18:28654664 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.176C>T (p.Thr59Ile) single nucleotide variant Cardiovascular phenotype [RCV002401801] Chr18:31092279 [GRCh38]
Chr18:28672242 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1423A>T (p.Ile475Leu) single nucleotide variant Cardiovascular phenotype [RCV002391868] Chr18:31080193 [GRCh38]
Chr18:28660159 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1925C>T (p.Pro642Leu) single nucleotide variant Cardiovascular phenotype [RCV002410790] Chr18:31071805 [GRCh38]
Chr18:28651771 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.246A>G (p.Thr82=) single nucleotide variant Cardiomyopathy [RCV003533259]|Cardiovascular phenotype [RCV002450592] Chr18:31092209 [GRCh38]
Chr18:28672172 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.570A>G (p.Arg190=) single nucleotide variant Cardiovascular phenotype [RCV002347597]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808279] Chr18:31089499 [GRCh38]
Chr18:28669462 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.947T>C (p.Ile316Thr) single nucleotide variant Cardiovascular phenotype [RCV002374066] Chr18:31083056 [GRCh38]
Chr18:28663022 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1544C>T (p.Thr515Ile) single nucleotide variant Cardiovascular phenotype [RCV002403226] Chr18:31079966 [GRCh38]
Chr18:28659932 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003099909]|Cardiovascular phenotype [RCV002430449] Chr18:31086686 [GRCh38]
Chr18:28666649 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1398T>A (p.Asp466Glu) single nucleotide variant Cardiovascular phenotype [RCV002389158] Chr18:31080218 [GRCh38]
Chr18:28660184 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.433C>T (p.Leu145=) single nucleotide variant Cardiovascular phenotype [RCV002332181] Chr18:31091069 [GRCh38]
Chr18:28671032 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1521G>A (p.Arg507=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005096126]|not specified [RCV002308695] Chr18:31079989 [GRCh38]
Chr18:28659955 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2194T>C (p.Leu732=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002862656] Chr18:31070782 [GRCh38]
Chr18:28650748 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs) indel Arrhythmogenic right ventricular dysplasia 11 [RCV002727057] Chr18:31086589 [GRCh38]
Chr18:28666552 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1965A>G (p.Arg655=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002614289] Chr18:31071765 [GRCh38]
Chr18:28651731 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1264-11T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002776162] Chr18:31080363 [GRCh38]
Chr18:28660329 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1547G>C (p.Gly516Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002771069] Chr18:31079963 [GRCh38]
Chr18:28659929 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002815341] Chr18:31082324 [GRCh38]
Chr18:28662290 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.660G>T (p.Gly220=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002861478]|Cardiomyopathy [RCV003533303] Chr18:31087784 [GRCh38]
Chr18:28667747 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.2508+19C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002842869] Chr18:31068875 [GRCh38]
Chr18:28648841 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1247T>C (p.Val416Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002819286] Chr18:31082254 [GRCh38]
Chr18:28662220 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.779C>T (p.Thr260Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003034996] Chr18:31086739 [GRCh38]
Chr18:28666702 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1608G>A (p.Glu536=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002819824] Chr18:31079902 [GRCh38]
Chr18:28659868 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002995049] Chr18:31080276 [GRCh38]
Chr18:28660242 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002995608]|not specified [RCV004782986] Chr18:31069093 [GRCh38]
Chr18:28649059 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1466C>T (p.Thr489Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002726824]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007563] Chr18:31080150 [GRCh38]
Chr18:28660116 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.940G>A (p.Glu314Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002842507] Chr18:31086578 [GRCh38]
Chr18:28666541 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2508+15G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002838667] Chr18:31068879 [GRCh38]
Chr18:28648845 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1752C>T (p.Ile584=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003074386] Chr18:31074819 [GRCh38]
Chr18:28654785 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1889A>T (p.Asp630Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002819453] Chr18:31071841 [GRCh38]
Chr18:28651807 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.355-10A>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002755678]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007578] Chr18:31091157 [GRCh38]
Chr18:28671120 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.775+11C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002972243] Chr18:31087658 [GRCh38]
Chr18:28667621 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.332T>G (p.Val111Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002756044] Chr18:31092123 [GRCh38]
Chr18:28672086 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2217A>G (p.Val739=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002975178]|Cardiovascular phenotype [RCV004068187] Chr18:31070759 [GRCh38]
Chr18:28650725 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1521-23_1521-8del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003074653] Chr18:31079997..31080012 [GRCh38]
Chr18:28659963..28659978 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002975347] Chr18:31071698 [GRCh38]
Chr18:28651664 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002615286] Chr18:31079970 [GRCh38]
Chr18:28659936 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.942+11_942+13dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002755140] Chr18:31086562..31086563 [GRCh38]
Chr18:28666526..28666527 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.776-5T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003039210] Chr18:31086747 [GRCh38]
Chr18:28666710 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.629A>C (p.Glu210Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003035577] Chr18:31089440 [GRCh38]
Chr18:28669403 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.986A>G (p.Asp329Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002781280] Chr18:31083017 [GRCh38]
Chr18:28662983 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003021723] Chr18:31068097 [GRCh38]
Chr18:28648063 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002848033] Chr18:31083012 [GRCh38]
Chr18:28662978 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.155-13A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003079405] Chr18:31092313 [GRCh38]
Chr18:28672276 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1344T>A (p.Ser448Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002695299] Chr18:31080272 [GRCh38]
Chr18:28660238 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003022030]|Cardiovascular phenotype [RCV003170889] Chr18:31082931 [GRCh38]
Chr18:28662897 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.255T>C (p.Ile85=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002927173]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007686] Chr18:31092200 [GRCh38]
Chr18:28672163 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2695A>T (p.Met899Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002949131]|Cardiovascular phenotype [RCV004068089] Chr18:31068026 [GRCh38]
Chr18:28647992 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.354+16T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002760828] Chr18:31092085 [GRCh38]
Chr18:28672048 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.211T>G (p.Phe71Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003053019]|Cardiomyopathy [RCV003533334]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009311] Chr18:31092244 [GRCh38]
Chr18:28672207 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2508+6T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002735527] Chr18:31068888 [GRCh38]
Chr18:28648854 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1867T>C (p.Trp623Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002705916]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007555] Chr18:31074704 [GRCh38]
Chr18:28654670 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2251T>C (p.Tyr751His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002659655] Chr18:31069151 [GRCh38]
Chr18:28649117 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.630+12A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002659050] Chr18:31089427 [GRCh38]
Chr18:28669390 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.882A>G (p.Leu294=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002636607]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009479] Chr18:31086636 [GRCh38]
Chr18:28666599 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.634A>G (p.Ile212Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002638267]|Cardiovascular phenotype [RCV004992549] Chr18:31087810 [GRCh38]
Chr18:28667773 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1296C>G (p.Ile432Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002620203] Chr18:31080320 [GRCh38]
Chr18:28660286 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2217A>T (p.Val739=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002695464] Chr18:31070759 [GRCh38]
Chr18:28650725 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+11C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003080183] Chr18:31086565 [GRCh38]
Chr18:28666528 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1663+9T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002998887] Chr18:31079838 [GRCh38]
Chr18:28659804 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1260del (p.Lys421fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003036784] Chr18:31082241 [GRCh38]
Chr18:28662207 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002913613] Chr18:31080352 [GRCh38]
Chr18:28660318 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.869C>T (p.Pro290Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002886104] Chr18:31086649 [GRCh38]
Chr18:28666612 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+15G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002866968] Chr18:31101888 [GRCh38]
Chr18:28681851 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2289T>A (p.Ala763=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003077636] Chr18:31069113 [GRCh38]
Chr18:28649079 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.621A>G (p.Glu207=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003036767] Chr18:31089448 [GRCh38]
Chr18:28669411 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.358C>A (p.Leu120Ile) single nucleotide variant Cardiovascular phenotype [RCV004111541] Chr18:31091144 [GRCh38]
Chr18:28671107 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2126-15dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002985734]|Cardiomyopathy [RCV003533321]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007740] Chr18:31070864..31070865 [GRCh38]
Chr18:28650830..28650831 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.525T>A (p.Gly175=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002667473] Chr18:31089544 [GRCh38]
Chr18:28669507 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1520+1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002875593] Chr18:31080095 [GRCh38]
Chr18:28660061 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1005A>G (p.Leu335=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002700826]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007551] Chr18:31082998 [GRCh38]
Chr18:28662964 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.381A>G (p.Glu127=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002918997] Chr18:31091121 [GRCh38]
Chr18:28671084 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+3A>G single nucleotide variant Cardiomyopathy [RCV003533276]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808357]|not provided [RCV002508734] Chr18:31086573 [GRCh38]
Chr18:28666536 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1263+5G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002765418] Chr18:31082233 [GRCh38]
Chr18:28662199 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.173T>G (p.Phe58Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003042745] Chr18:31092282 [GRCh38]
Chr18:28672245 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.975A>C (p.Val325=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002572825]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007491] Chr18:31083028 [GRCh38]
Chr18:28662994 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+20G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002894267] Chr18:31074663 [GRCh38]
Chr18:28654629 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+9A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003083884] Chr18:31086567 [GRCh38]
Chr18:28666530 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.318G>T (p.Lys106Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002828201] Chr18:31092137 [GRCh38]
Chr18:28672100 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.355-10A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002851909] Chr18:31091157 [GRCh38]
Chr18:28671120 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.428C>G (p.Ser143Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002801089] Chr18:31091074 [GRCh38]
Chr18:28671037 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2265C>T (p.Gly755=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003005694] Chr18:31069137 [GRCh38]
Chr18:28649103 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.858G>C (p.Gly286=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002786202] Chr18:31086660 [GRCh38]
Chr18:28666623 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.254T>C (p.Ile85Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003043306] Chr18:31092201 [GRCh38]
Chr18:28672164 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.372T>C (p.His124=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003056563]|Cardiovascular phenotype [RCV003383003] Chr18:31091130 [GRCh38]
Chr18:28671093 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2508+1G>A single nucleotide variant Cardiovascular phenotype [RCV004110473] Chr18:31068893 [GRCh38]
Chr18:28648859 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002644404]|Cardiovascular phenotype [RCV004072081]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009527]|not provided [RCV004765697] Chr18:31080141 [GRCh38]
Chr18:28660107 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.155T>A (p.Val52Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003043372] Chr18:31092300 [GRCh38]
Chr18:28672263 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002958595] Chr18:31070775 [GRCh38]
Chr18:28650741 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2606T>G (p.Val869Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002667101] Chr18:31068115 [GRCh38]
Chr18:28648081 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2010C>T (p.Asp670=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002801850] Chr18:31071720 [GRCh38]
Chr18:28651686 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1520+4C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002829777] Chr18:31080092 [GRCh38]
Chr18:28660058 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002643642] Chr18:31069019 [GRCh38]
Chr18:28648985 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1620C>T (p.Ile540=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002642195] Chr18:31079890 [GRCh38]
Chr18:28659856 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2126-6C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003045459] Chr18:31070856 [GRCh38]
Chr18:28650822 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.562G>A (p.Val188Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003062691]|Cardiomyopathy [RCV003533338] Chr18:31089507 [GRCh38]
Chr18:28669470 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2126-20A>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003063824] Chr18:31070870 [GRCh38]
Chr18:28650836 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002899903] Chr18:31074785 [GRCh38]
Chr18:28654751 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002938465]|Cardiovascular phenotype [RCV003170609] Chr18:31071791 [GRCh38]
Chr18:28651757 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.240T>C (p.Tyr80=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002715605] Chr18:31092215 [GRCh38]
Chr18:28672178 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.69+5G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002676617] Chr18:31101898 [GRCh38]
Chr18:28681861 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2508+17G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002602092] Chr18:31068877 [GRCh38]
Chr18:28648843 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2237G>A (p.Gly746Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005099701]|Cardiovascular phenotype [RCV004130363] Chr18:31070739 [GRCh38]
Chr18:28650705 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1446A>G (p.Glu482=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002770897] Chr18:31080170 [GRCh38]
Chr18:28660136 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.774G>C (p.Val258=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002600620] Chr18:31087670 [GRCh38]
Chr18:28667633 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.16C>G (p.Pro6Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003045744] Chr18:31101956 [GRCh38]
Chr18:28681919 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.813T>A (p.Asp271Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002649496] Chr18:31086705 [GRCh38]
Chr18:28666668 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.413C>T (p.Ala138Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002806739] Chr18:31091089 [GRCh38]
Chr18:28671052 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.324A>T (p.Lys108Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002717023] Chr18:31092131 [GRCh38]
Chr18:28672094 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003011363] Chr18:31079852 [GRCh38]
Chr18:28659818 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2559T>C (p.Tyr853=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003061458]|Cardiovascular phenotype [RCV004071705] Chr18:31068162 [GRCh38]
Chr18:28648128 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.474+5C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002810073] Chr18:31091023 [GRCh38]
Chr18:28670986 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.943-17T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003087949] Chr18:31083077 [GRCh38]
Chr18:28663043 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2508+20C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002629822] Chr18:31068874 [GRCh38]
Chr18:28648840 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1848T>A (p.Thr616=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002806833] Chr18:31074723 [GRCh38]
Chr18:28654689 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.853A>G (p.Ile285Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002899595] Chr18:31086665 [GRCh38]
Chr18:28666628 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1494A>G (p.Pro498=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003047512] Chr18:31080122 [GRCh38]
Chr18:28660088 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002988685]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004808392] Chr18:31087725 [GRCh38]
Chr18:28667688 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.347A>C (p.Gln116Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002580348] Chr18:31092108 [GRCh38]
Chr18:28672071 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002900057]|Cardiomyopathy [RCV003533309]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007661] Chr18:31093595 [GRCh38]
Chr18:28673558 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003063817] Chr18:31071606 [GRCh38]
Chr18:28651572 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2142G>A (p.Leu714=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003087534]|not provided [RCV003420326] Chr18:31070834 [GRCh38]
Chr18:28650800 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.448G>T (p.Gly150Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003061513]|Cardiovascular phenotype [RCV004992477] Chr18:31091054 [GRCh38]
Chr18:28671017 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1396G>C (p.Asp466His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003064215]|Cardiomyopathy [RCV003533331] Chr18:31080220 [GRCh38]
Chr18:28660186 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1312G>C (p.Val438Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003061103] Chr18:31080304 [GRCh38]
Chr18:28660270 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.354+7A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002675660] Chr18:31092094 [GRCh38]
Chr18:28672057 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1889-14A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002599419]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009456] Chr18:31071855 [GRCh38]
Chr18:28651821 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2628A>G (p.Gln876=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002720905] Chr18:31068093 [GRCh38]
Chr18:28648059 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV002811983] Chr18:31068147..31068148 [GRCh38]
Chr18:28648113..28648114 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1255G>A (p.Val419Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003044316] Chr18:31082246 [GRCh38]
Chr18:28662212 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2012G>A (p.Cys671Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002653494]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007527] Chr18:31071718 [GRCh38]
Chr18:28651684 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.378A>C (p.Lys126Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002605095]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007514] Chr18:31091124 [GRCh38]
Chr18:28671087 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2377A>G (p.Thr793Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002634683] Chr18:31069025 [GRCh38]
Chr18:28648991 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.70A>T (p.Ile24Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002721441] Chr18:31093643 [GRCh38]
Chr18:28673606 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2505T>G (p.Gly835=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002604288] Chr18:31068897 [GRCh38]
Chr18:28648863 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002654708]|Cardiovascular phenotype [RCV004992548]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009518] Chr18:31074809 [GRCh38]
Chr18:28654775 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1744G>A (p.Val582Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003071597] Chr18:31074827 [GRCh38]
Chr18:28654793 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2373C>T (p.His791=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002633533]|Cardiovascular phenotype [RCV004070752] Chr18:31069029 [GRCh38]
Chr18:28648995 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.328T>C (p.Phe110Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003066528] Chr18:31092127 [GRCh38]
Chr18:28672090 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+9A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002586998] Chr18:31101894 [GRCh38]
Chr18:28681857 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.877A>G (p.Thr293Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003072017] Chr18:31086641 [GRCh38]
Chr18:28666604 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.545C>T (p.Pro182Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003049525] Chr18:31089524 [GRCh38]
Chr18:28669487 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002607915]|Cardiovascular phenotype [RCV004070665]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009487] Chr18:31074776 [GRCh38]
Chr18:28654742 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1812T>C (p.His604=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002653317]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007521] Chr18:31074759 [GRCh38]
Chr18:28654725 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-20_2509-18del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV002942826] Chr18:31068230..31068232 [GRCh38]
Chr18:28648196..28648198 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2175A>G (p.Pro725=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002603219] Chr18:31070801 [GRCh38]
Chr18:28650767 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2625A>G (p.Arg875=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002726111] Chr18:31068096 [GRCh38]
Chr18:28648062 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.779C>G (p.Thr260Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002609341]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007511] Chr18:31086739 [GRCh38]
Chr18:28666702 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.775+18C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002611237] Chr18:31087651 [GRCh38]
Chr18:28667614 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002607876]|Cardiovascular phenotype [RCV004992536] Chr18:31068028 [GRCh38]
Chr18:28647994 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1811A>G (p.His604Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV002585772] Chr18:31074760 [GRCh38]
Chr18:28654726 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.928C>G (p.Gln310Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003072699] Chr18:31086590 [GRCh38]
Chr18:28666553 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.275G>T (p.Arg92Ile) single nucleotide variant Cardiovascular phenotype [RCV003171386] Chr18:31092180 [GRCh38]
Chr18:28672143 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2251-74_2279del deletion not provided [RCV003221480] Chr18:31069123..31069225 [GRCh38]
Chr18:28649089..28649191 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1556C>A (p.Thr519Asn) single nucleotide variant Cardiovascular phenotype [RCV004282621] Chr18:31079954 [GRCh38]
Chr18:28659920 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2426G>A (p.Cys809Tyr) single nucleotide variant Cardiovascular phenotype [RCV003176868] Chr18:31068976 [GRCh38]
Chr18:28648942 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.219T>A (p.Ile73=) single nucleotide variant Cardiovascular phenotype [RCV003176870] Chr18:31092236 [GRCh38]
Chr18:28672199 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.11C>T (p.Ala4Val) single nucleotide variant not provided [RCV003225459] Chr18:31101961 [GRCh38]
Chr18:28681924 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.448G>A (p.Gly150Ser) single nucleotide variant Primary dilated cardiomyopathy [RCV003319261] Chr18:31091054 [GRCh38]
Chr18:28671017 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.369A>G (p.Arg123=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631311]|not specified [RCV003331636] Chr18:31091133 [GRCh38]
Chr18:28671096 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1530A>C (p.Lys510Asn) single nucleotide variant Cardiovascular phenotype [RCV003384212] Chr18:31079980 [GRCh38]
Chr18:28659946 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1845T>C (p.Ser615=) single nucleotide variant Cardiovascular phenotype [RCV003384213] Chr18:31074726 [GRCh38]
Chr18:28654692 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+2T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003482201] Chr18:31074681 [GRCh38]
Chr18:28654647 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003873878] Chr18:31068112 [GRCh38]
Chr18:28648078 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2251-19C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003875758] Chr18:31069170 [GRCh38]
Chr18:28649136 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1 copy number loss not provided [RCV003483335] Chr18:26595964..38643072 [GRCh37]
Chr18:18q12.1-12.3		 pathogenic
NM_024422.6(DSC2):c.415C>G (p.Pro139Ala) single nucleotide variant not provided [RCV003480273] Chr18:31091087 [GRCh38]
Chr18:28671050 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1238A>T (p.Asn413Ile) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011335]|not specified [RCV003479748] Chr18:31082263 [GRCh38]
Chr18:28662229 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.154+2T>A single nucleotide variant Cardiomyopathy [RCV003487212] Chr18:31093557 [GRCh38]
Chr18:28673520 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631322]|not specified [RCV003388455] Chr18:31091059 [GRCh38]
Chr18:28671022 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2103G>T (p.Leu701Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517590]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011349] Chr18:31071627 [GRCh38]
Chr18:28651593 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1571C>G (p.Thr524Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518174] Chr18:31079939 [GRCh38]
Chr18:28659905 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1020T>G (p.Thr340=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518180] Chr18:31082983 [GRCh38]
Chr18:28662949 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1824T>C (p.Phe608=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518224] Chr18:31074747 [GRCh38]
Chr18:28654713 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2102T>G (p.Leu701Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518353] Chr18:31071628 [GRCh38]
Chr18:28651594 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1105G>A (p.Val369Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518509] Chr18:31082396 [GRCh38]
Chr18:28662362 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2484T>C (p.Ser828=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516654] Chr18:31068918 [GRCh38]
Chr18:28648884 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518524]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011391] Chr18:31068082 [GRCh38]
Chr18:28648048 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1264-19A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516727] Chr18:31080371 [GRCh38]
Chr18:28660337 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.748T>A (p.Phe250Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518187] Chr18:31087696 [GRCh38]
Chr18:28667659 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.76A>G (p.Ile26Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518404] Chr18:31093637 [GRCh38]
Chr18:28673600 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.296C>T (p.Ser99Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518411] Chr18:31092159 [GRCh38]
Chr18:28672122 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.942+23C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518580] Chr18:31086553 [GRCh38]
Chr18:28666519 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.155-15G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518454] Chr18:31092315 [GRCh38]
Chr18:28672278 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+19A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003882339] Chr18:31082219 [GRCh38]
Chr18:28662185 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2199C>T (p.Ala733=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518154] Chr18:31070777 [GRCh38]
Chr18:28650743 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1852G>A (p.Glu618Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518059] Chr18:31074719 [GRCh38]
Chr18:28654685 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1187dup (p.Leu396fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV003518069] Chr18:31082313..31082314 [GRCh38]
Chr18:28662279..28662280 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1664-17dup duplication Arrhythmogenic right ventricular dysplasia 11 [RCV003517058] Chr18:31074923..31074924 [GRCh38]
Chr18:28654889..28654890 [GRCh37]
Chr18:18q12.1		 benign
NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516645] Chr18:31082981 [GRCh38]
Chr18:28662947 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2499T>A (p.Arg833=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516652] Chr18:31068903 [GRCh38]
Chr18:28648869 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516796] Chr18:31071794 [GRCh38]
Chr18:28651760 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1477T>C (p.Tyr493His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516829]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011430] Chr18:31080139 [GRCh38]
Chr18:28660105 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1520+20A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003882264] Chr18:31080076 [GRCh38]
Chr18:28660042 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.154+15A>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517701] Chr18:31093544 [GRCh38]
Chr18:28673507 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003880645] Chr18:31074692 [GRCh38]
Chr18:28654658 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516907] Chr18:31069055 [GRCh38]
Chr18:28649021 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.530G>C (p.Gly177Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003516841] Chr18:31089539 [GRCh38]
Chr18:28669502 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1263+14A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517003] Chr18:31082224 [GRCh38]
Chr18:28662190 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.811G>A (p.Asp271Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517554] Chr18:31086707 [GRCh38]
Chr18:28666670 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1664-19T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003517054] Chr18:31074926 [GRCh38]
Chr18:28654892 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1521-11A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003779357]|Cardiomyopathy [RCV003533597] Chr18:31080000 [GRCh38]
Chr18:28659966 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.847T>C (p.Ser283Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632214] Chr18:31086671 [GRCh38]
Chr18:28666634 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632249] Chr18:31082978 [GRCh38]
Chr18:28662944 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1256T>C (p.Val419Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632254] Chr18:31082245 [GRCh38]
Chr18:28662211 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632276] Chr18:31069095 [GRCh38]
Chr18:28649061 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2124T>C (p.Phe708=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632317] Chr18:31071606 [GRCh38]
Chr18:28651572 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632328] Chr18:31080336 [GRCh38]
Chr18:28660302 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632297] Chr18:31071622 [GRCh38]
Chr18:28651588 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.686del (p.Leu229fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003632388]|Cardiovascular phenotype [RCV004621858] Chr18:31087758 [GRCh38]
Chr18:28667721 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2514G>A (p.Val838=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632403]|Cardiovascular phenotype [RCV004373939] Chr18:31068207 [GRCh38]
Chr18:28648173 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2406C>T (p.His802=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632449] Chr18:31068996 [GRCh38]
Chr18:28648962 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-19G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632650] Chr18:31068231 [GRCh38]
Chr18:28648197 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.229G>A (p.Gly77Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003518820] Chr18:31092226 [GRCh38]
Chr18:28672189 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2T>G (p.Met1Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632723] Chr18:31101970 [GRCh38]
Chr18:28681933 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1358T>C (p.Met453Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632703] Chr18:31080258 [GRCh38]
Chr18:28660224 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2304T>C (p.Val768=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632716] Chr18:31069098 [GRCh38]
Chr18:28649064 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.46C>G (p.Arg16Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631505] Chr18:31101926 [GRCh38]
Chr18:28681889 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632908] Chr18:31071634 [GRCh38]
Chr18:28651600 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.93C>T (p.Ala31=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005062222] Chr18:31093620 [GRCh38]
Chr18:28673583 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2097A>G (p.Ala699=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631644] Chr18:31071633 [GRCh38]
Chr18:28651599 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2467dup (p.Tyr823fs) duplication Cardiomyopathy [RCV003533586] Chr18:31068934..31068935 [GRCh38]
Chr18:28648900..28648901 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2631A>G (p.Glu877=) single nucleotide variant Cardiomyopathy [RCV003533582]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011607] Chr18:31068090 [GRCh38]
Chr18:28648056 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2627A>G (p.Gln876Arg) single nucleotide variant Cardiomyopathy [RCV003533583] Chr18:31068094 [GRCh38]
Chr18:28648060 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1953A>G (p.Thr651=) single nucleotide variant Cardiomyopathy [RCV003533591] Chr18:31071777 [GRCh38]
Chr18:28651743 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.875C>A (p.Pro292His) single nucleotide variant Cardiomyopathy [RCV003533601] Chr18:31086643 [GRCh38]
Chr18:28666606 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2705G>A (p.Ter902=) single nucleotide variant Cardiomyopathy [RCV003533581] Chr18:31068016 [GRCh38]
Chr18:28647982 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1706A>T (p.Asp569Val) single nucleotide variant Cardiomyopathy [RCV003533593] Chr18:31074865 [GRCh38]
Chr18:28654831 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.217A>G (p.Ile73Val) single nucleotide variant Cardiomyopathy [RCV003533610] Chr18:31092238 [GRCh38]
Chr18:28672201 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.-4C>T single nucleotide variant Cardiomyopathy [RCV003533616] Chr18:31101975 [GRCh38]
Chr18:28681938 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1564G>A (p.Glu522Lys) single nucleotide variant Cardiomyopathy [RCV003533595] Chr18:31079946 [GRCh38]
Chr18:28659912 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.836G>T (p.Arg279Leu) single nucleotide variant Cardiomyopathy [RCV003533602]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011610] Chr18:31086682 [GRCh38]
Chr18:28666645 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.696A>G (p.Lys232=) single nucleotide variant Cardiomyopathy [RCV003533603] Chr18:31087748 [GRCh38]
Chr18:28667711 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.122C>T (p.Ser41Phe) single nucleotide variant Cardiomyopathy [RCV003533611] Chr18:31093591 [GRCh38]
Chr18:28673554 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.76A>T (p.Ile26Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005063072]|Cardiomyopathy [RCV003533612]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011611] Chr18:31093637 [GRCh38]
Chr18:28673600 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631797] Chr18:31070773 [GRCh38]
Chr18:28650739 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.495A>G (p.Gln165=) single nucleotide variant Cardiomyopathy [RCV003533607] Chr18:31089574 [GRCh38]
Chr18:28669537 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.69G>T (p.Ala23=) single nucleotide variant Cardiomyopathy [RCV003533614] Chr18:31101903 [GRCh38]
Chr18:28681866 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2136del (p.Phe712fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003631908] Chr18:31070840 [GRCh38]
Chr18:28650806 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.393G>A (p.Arg131=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632000] Chr18:31091109 [GRCh38]
Chr18:28671072 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1263+12T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631992] Chr18:31082226 [GRCh38]
Chr18:28662192 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.128T>C (p.Leu43Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632082] Chr18:31093585 [GRCh38]
Chr18:28673548 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2589A>T (p.Gly863=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632157] Chr18:31068132 [GRCh38]
Chr18:28648098 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2509-4G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632188] Chr18:31068216 [GRCh38]
Chr18:28648182 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632392] Chr18:31079954 [GRCh38]
Chr18:28659920 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.354+12T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632405] Chr18:31092089 [GRCh38]
Chr18:28672052 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.114T>C (p.His38=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632407] Chr18:31093599 [GRCh38]
Chr18:28673562 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2312C>T (p.Thr771Ile) single nucleotide variant Cardiomyopathy [RCV003533587] Chr18:31069090 [GRCh38]
Chr18:28649056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1987T>G (p.Ser663Ala) single nucleotide variant Cardiomyopathy [RCV003533589] Chr18:31071743 [GRCh38]
Chr18:28651709 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1985del (p.Thr662fs) deletion Cardiomyopathy [RCV003533590] Chr18:31071745 [GRCh38]
Chr18:28651711 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1782T>G (p.Ile594Met) single nucleotide variant Cardiomyopathy [RCV003533592] Chr18:31074789 [GRCh38]
Chr18:28654755 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1552G>T (p.Val518Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005101419]|Cardiomyopathy [RCV003533596] Chr18:31079958 [GRCh38]
Chr18:28659924 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.942G>A (p.Glu314=) single nucleotide variant Cardiomyopathy [RCV003533600]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805549] Chr18:31086576 [GRCh38]
Chr18:28666539 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.679C>T (p.Leu227=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005063071]|Cardiomyopathy [RCV003533604] Chr18:31087765 [GRCh38]
Chr18:28667728 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.631-1G>A single nucleotide variant Cardiomyopathy [RCV003533605] Chr18:31087814 [GRCh38]
Chr18:28667777 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.306G>C (p.Glu102Asp) single nucleotide variant Cardiomyopathy [RCV003533609] Chr18:31092149 [GRCh38]
Chr18:28672112 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.155-17G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003814366] Chr18:31092317 [GRCh38]
Chr18:28672280 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.973G>A (p.Val325Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003832610] Chr18:31083030 [GRCh38]
Chr18:28662996 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.288A>T (p.Ile96=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632580] Chr18:31092167 [GRCh38]
Chr18:28672130 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.631-10C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003811470] Chr18:31087823 [GRCh38]
Chr18:28667786 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.807C>T (p.Asp269=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632840] Chr18:31086711 [GRCh38]
Chr18:28666674 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1521-14A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632196]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011721] Chr18:31080003 [GRCh38]
Chr18:28659969 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632527]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004005820] Chr18:31082406 [GRCh38]
Chr18:28662372 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1956G>T (p.Val652=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632337] Chr18:31071774 [GRCh38]
Chr18:28651740 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1664-10A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631393] Chr18:31074917 [GRCh38]
Chr18:28654883 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1145A>T (p.Asp382Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631533] Chr18:31082356 [GRCh38]
Chr18:28662322 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631582] Chr18:31079895 [GRCh38]
Chr18:28659861 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.453T>C (p.Pro151=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631731] Chr18:31091049 [GRCh38]
Chr18:28671012 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2152G>T (p.Ala718Ser) single nucleotide variant Cardiomyopathy [RCV003533588]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011608] Chr18:31070824 [GRCh38]
Chr18:28650790 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1635T>C (p.Tyr545=) single nucleotide variant Cardiomyopathy [RCV003533594]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011609] Chr18:31079875 [GRCh38]
Chr18:28659841 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.775+3_775+6del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003631888] Chr18:31087663..31087666 [GRCh38]
Chr18:28667626..28667629 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.355-9T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631910] Chr18:31091156 [GRCh38]
Chr18:28671119 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.549G>A (p.Arg183=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632086] Chr18:31089520 [GRCh38]
Chr18:28669483 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2061T>C (p.Gly687=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632103]|Cardiovascular phenotype [RCV004371823] Chr18:31071669 [GRCh38]
Chr18:28651635 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1734T>G (p.Pro578=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632375] Chr18:31074837 [GRCh38]
Chr18:28654803 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.171C>T (p.Cys57=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632387] Chr18:31092284 [GRCh38]
Chr18:28672247 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632201] Chr18:31080300 [GRCh38]
Chr18:28660266 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.401A>G (p.Lys134Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632244] Chr18:31091101 [GRCh38]
Chr18:28671064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1313T>C (p.Val438Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631616] Chr18:31080303 [GRCh38]
Chr18:28660269 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2593G>A (p.Val865Met) single nucleotide variant Cardiomyopathy [RCV003533584] Chr18:31068128 [GRCh38]
Chr18:28648094 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2509-11C>T single nucleotide variant Cardiomyopathy [RCV003533585] Chr18:31068223 [GRCh38]
Chr18:28648189 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+6A>G single nucleotide variant Cardiomyopathy [RCV003533599] Chr18:31086570 [GRCh38]
Chr18:28666533 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.338del (p.Leu113fs) deletion Cardiomyopathy [RCV003533608] Chr18:31092117 [GRCh38]
Chr18:28672080 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.54C>A (p.Leu18=) single nucleotide variant Cardiomyopathy [RCV003533615] Chr18:31101918 [GRCh38]
Chr18:28681881 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1326A>G (p.Pro442=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632541] Chr18:31080290 [GRCh38]
Chr18:28660256 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.648A>C (p.Thr216=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632418] Chr18:31087796 [GRCh38]
Chr18:28667759 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2106G>A (p.Leu702=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632034] Chr18:31071624 [GRCh38]
Chr18:28651590 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632088]|Cardiovascular phenotype [RCV004992721]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011715] Chr18:31074833 [GRCh38]
Chr18:28654799 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_024422.6(DSC2):c.1575A>T (p.Gly525=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632291] Chr18:31079935 [GRCh38]
Chr18:28659901 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.182C>T (p.Ala61Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631652] Chr18:31092273 [GRCh38]
Chr18:28672236 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2408A>C (p.His803Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632431] Chr18:31068994 [GRCh38]
Chr18:28648960 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.951_952delinsTT (p.Lys318Ter) indel Cardiomyopathy [RCV003533598] Chr18:31083051..31083052 [GRCh38]
Chr18:28663017..28663018 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.70-8T>C single nucleotide variant Cardiomyopathy [RCV003533613] Chr18:31093651 [GRCh38]
Chr18:28673614 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631815] Chr18:31080327 [GRCh38]
Chr18:28660293 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632569] Chr18:31080271 [GRCh38]
Chr18:28660237 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.154G>A (p.Val52Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632626] Chr18:31093559 [GRCh38]
Chr18:28673522 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.16C>T (p.Pro6Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632641] Chr18:31101956 [GRCh38]
Chr18:28681919 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003816476] Chr18:31080111 [GRCh38]
Chr18:28660077 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.610G>A (p.Glu204Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003632005] Chr18:31089459 [GRCh38]
Chr18:28669422 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.826A>G (p.Met276Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003631399] Chr18:31086692 [GRCh38]
Chr18:28666655 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2250+14C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003846349] Chr18:31070712 [GRCh38]
Chr18:28650678 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.205C>A (p.Pro69Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003845748] Chr18:31092250 [GRCh38]
Chr18:28672213 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2049A>C (p.Pro683=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003842384] Chr18:31071681 [GRCh38]
Chr18:28651647 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003844897] Chr18:31080292 [GRCh38]
Chr18:28660258 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.942+21A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003862059] Chr18:31086555 [GRCh38]
Chr18:28666521 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.943-3C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003847113] Chr18:31083063 [GRCh38]
Chr18:28663029 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.938G>A (p.Arg313Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003858686]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805627] Chr18:31086580 [GRCh38]
Chr18:28666543 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2045A>T (p.Asp682Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003870517] Chr18:31071685 [GRCh38]
Chr18:28651651 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003871233] Chr18:31080189 [GRCh38]
Chr18:28660155 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003867929] Chr18:31074838 [GRCh38]
Chr18:28654804 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.133del (p.Ala45fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV003843033] Chr18:31093580 [GRCh38]
Chr18:28673543 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2125+8T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003842833] Chr18:31071597 [GRCh38]
Chr18:28651563 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003869300] Chr18:31071838 [GRCh38]
Chr18:28651804 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.62C>T (p.Thr21Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003870061] Chr18:31101910 [GRCh38]
Chr18:28681873 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003824289] Chr18:31071656 [GRCh38]
Chr18:28651622 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.391A>G (p.Arg131Gly) single nucleotide variant not specified [RCV003994827] Chr18:31091111 [GRCh38]
Chr18:28671074 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1757A>G (p.Lys586Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008185] Chr18:31074814 [GRCh38]
Chr18:28654780 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2562C>G (p.Val854=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009946] Chr18:31068159 [GRCh38]
Chr18:28648125 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.892C>A (p.His298Asn) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008216] Chr18:31086626 [GRCh38]
Chr18:28666589 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1396G>A (p.Asp466Asn) single nucleotide variant Cardiovascular phenotype [RCV004517586] Chr18:31080220 [GRCh38]
Chr18:28660186 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1058C>G (p.Pro353Arg) single nucleotide variant Cardiovascular phenotype [RCV004517585] Chr18:31082945 [GRCh38]
Chr18:28662911 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2164T>C (p.Ser722Pro) single nucleotide variant Cardiovascular phenotype [RCV004517590] Chr18:31070812 [GRCh38]
Chr18:28650778 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2277A>G (p.Gln759=) single nucleotide variant Cardiovascular phenotype [RCV004517592] Chr18:31069125 [GRCh38]
Chr18:28649091 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2591C>G (p.Ser864Trp) single nucleotide variant Cardiovascular phenotype [RCV004517593] Chr18:31068130 [GRCh38]
Chr18:28648096 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2385A>T (p.Glu795Asp) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008263] Chr18:31069017 [GRCh38]
Chr18:28648983 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1144G>T (p.Asp382Tyr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007787] Chr18:31082357 [GRCh38]
Chr18:28662323 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2147G>T (p.Cys716Phe) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007914] Chr18:31070829 [GRCh38]
Chr18:28650795 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2057G>T (p.Gly686Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007916] Chr18:31071673 [GRCh38]
Chr18:28651639 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.712_714del (p.Asp238del) deletion Cardiovascular phenotype [RCV004371954]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014836] Chr18:31087730..31087732 [GRCh38]
Chr18:28667693..28667695 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.677C>T (p.Pro226Leu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009784] Chr18:31087767 [GRCh38]
Chr18:28667730 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.83C>T (p.Ala28Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004008095] Chr18:31093630 [GRCh38]
Chr18:28673593 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.584_595delinsCA (p.Leu195fs) indel not provided [RCV003993496] Chr18:31089474..31089485 [GRCh38]
Chr18:28669437..28669448 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.921A>G (p.Thr307=) single nucleotide variant Cardiovascular phenotype [RCV004517597] Chr18:31086597 [GRCh38]
Chr18:28666560 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2012G>C (p.Cys671Ser) single nucleotide variant Cardiovascular phenotype [RCV004371958]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016333] Chr18:31071718 [GRCh38]
Chr18:28651684 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2233C>T (p.Pro745Ser) single nucleotide variant Cardiovascular phenotype [RCV004517591] Chr18:31070743 [GRCh38]
Chr18:28650709 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1683G>T (p.Gly561=) single nucleotide variant Cardiovascular phenotype [RCV004517588] Chr18:31074888 [GRCh38]
Chr18:28654854 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1978A>G (p.Ser660Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004010236] Chr18:31071752 [GRCh38]
Chr18:28651718 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.726T>C (p.Ile242=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009908] Chr18:31087718 [GRCh38]
Chr18:28667681 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2128A>G (p.Ile710Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004007918] Chr18:31070848 [GRCh38]
Chr18:28650814 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.68C>G (p.Ala23Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV003994632] Chr18:31101904 [GRCh38]
Chr18:28681867 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.834_835dup (p.Arg279fs) microsatellite not provided [RCV003887642] Chr18:31086682..31086683 [GRCh38]
Chr18:28666645..28666646 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1625dup (p.Asn542fs) duplication Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012315] Chr18:31079884..31079885 [GRCh38]
Chr18:28659850..28659851 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2482A>C (p.Ser828Arg) single nucleotide variant Cardiovascular phenotype [RCV004994422]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012179] Chr18:31068920 [GRCh38]
Chr18:28648886 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.251C>G (p.Thr84Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012399] Chr18:31092204 [GRCh38]
Chr18:28672167 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1521-12C>A single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012752] Chr18:31080001 [GRCh38]
Chr18:28659967 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.976C>G (p.Gln326Glu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011898] Chr18:31083027 [GRCh38]
Chr18:28662993 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.899C>A (p.Thr300Asn) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012845] Chr18:31086619 [GRCh38]
Chr18:28666582 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.41T>G (p.Leu14Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012219] Chr18:31101931 [GRCh38]
Chr18:28681894 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2590T>G (p.Ser864Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011952] Chr18:31068131 [GRCh38]
Chr18:28648097 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.878C>T (p.Thr293Ile) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011976] Chr18:31086640 [GRCh38]
Chr18:28666603 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.143TTG[1] (p.Val49del) microsatellite Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012050] Chr18:31093565..31093567 [GRCh38]
Chr18:28673528..28673530 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1531T>G (p.Leu511Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012053] Chr18:31079979 [GRCh38]
Chr18:28659945 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.191T>C (p.Ile64Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012088] Chr18:31092264 [GRCh38]
Chr18:28672227 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2264G>A (p.Gly755Asp) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012104] Chr18:31069138 [GRCh38]
Chr18:28649104 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2131C>G (p.Leu711Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012181] Chr18:31070845 [GRCh38]
Chr18:28650811 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.706G>A (p.Glu236Lys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012027] Chr18:31087738 [GRCh38]
Chr18:28667701 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1524T>A (p.Tyr508Ter) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011830] Chr18:31079986 [GRCh38]
Chr18:28659952 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.938G>C (p.Arg313Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011829] Chr18:31086580 [GRCh38]
Chr18:28666543 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1424T>A (p.Ile475Lys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012509] Chr18:31080192 [GRCh38]
Chr18:28660158 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2437C>A (p.His813Asn) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012523] Chr18:31068965 [GRCh38]
Chr18:28648931 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1558A>T (p.Ile520Phe) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004009901] Chr18:31079952 [GRCh38]
Chr18:28659918 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1856T>C (p.Val619Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012593] Chr18:31074715 [GRCh38]
Chr18:28654681 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1892C>G (p.Thr631Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012637] Chr18:31071838 [GRCh38]
Chr18:28651804 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.98A>G (p.Lys33Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012545] Chr18:31093615 [GRCh38]
Chr18:28673578 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2541C>A (p.His847Gln) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004011984] Chr18:31068180 [GRCh38]
Chr18:28648146 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2121C>A (p.Leu707=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012075] Chr18:31071609 [GRCh38]
Chr18:28651575 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1611A>G (p.Ala537=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012818] Chr18:31079899 [GRCh38]
Chr18:28659865 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1197T>C (p.Asn399=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012821] Chr18:31082304 [GRCh38]
Chr18:28662270 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1452A>T (p.Ala484=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012099] Chr18:31080164 [GRCh38]
Chr18:28660130 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2003T>A (p.Leu668Gln) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012372] Chr18:31071727 [GRCh38]
Chr18:28651693 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2189A>T (p.Asp730Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012373] Chr18:31070787 [GRCh38]
Chr18:28650753 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.482C>T (p.Ser161Phe) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004012727] Chr18:31089587 [GRCh38]
Chr18:28669550 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.458C>G (p.Pro153Arg) single nucleotide variant Cardiovascular phenotype [RCV004377170] Chr18:31091044 [GRCh38]
Chr18:28671007 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.716A>G (p.Asn239Ser) single nucleotide variant Cardiovascular phenotype [RCV004377171] Chr18:31087728 [GRCh38]
Chr18:28667691 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.225G>T (p.Glu75Asp) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014746] Chr18:31092230 [GRCh38]
Chr18:28672193 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1184T>C (p.Ile395Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014799] Chr18:31082317 [GRCh38]
Chr18:28662283 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.302C>A (p.Thr101Asn) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016113] Chr18:31092153 [GRCh38]
Chr18:28672116 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.35_37dup (p.Gly12_Ala13insGly) duplication Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013117] Chr18:31101934..31101935 [GRCh38]
Chr18:28681897..28681898 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.70A>C (p.Ile24Leu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016062] Chr18:31093643 [GRCh38]
Chr18:28673606 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1765A>T (p.Met589Leu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014832] Chr18:31074806 [GRCh38]
Chr18:28654772 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2319A>G (p.Gly773=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016383] Chr18:31069083 [GRCh38]
Chr18:28649049 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1125A>G (p.Arg375=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016426] Chr18:31082376 [GRCh38]
Chr18:28662342 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.990T>A (p.Gly330=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014952] Chr18:31083013 [GRCh38]
Chr18:28662979 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.131A>G (p.Asp44Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016345] Chr18:31093582 [GRCh38]
Chr18:28673545 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.679C>A (p.Leu227Met) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016506] Chr18:31087765 [GRCh38]
Chr18:28667728 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.829C>T (p.His277Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005103241]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013290] Chr18:31086689 [GRCh38]
Chr18:28666652 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.943-9del deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014862] Chr18:31083069 [GRCh38]
Chr18:28663035 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.155-5_155-3dup duplication Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013282] Chr18:31092302..31092303 [GRCh38]
Chr18:28672265..28672266 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.355-15G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005103239]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013283] Chr18:31091162 [GRCh38]
Chr18:28671125 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.78A>G (p.Ile26Met) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014051] Chr18:31093635 [GRCh38]
Chr18:28673598 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2040T>G (p.Arg680=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014947] Chr18:31071690 [GRCh38]
Chr18:28651656 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2491C>T (p.Gln831Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005103314]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016575] Chr18:31068911 [GRCh38]
Chr18:28648877 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.213C>G (p.Phe71Leu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015064] Chr18:31092242 [GRCh38]
Chr18:28672205 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1996G>T (p.Val666Phe) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013847] Chr18:31071734 [GRCh38]
Chr18:28651700 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2329A>G (p.Lys777Glu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016863] Chr18:31069073 [GRCh38]
Chr18:28649039 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1399G>A (p.Glu467Lys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016760] Chr18:31080217 [GRCh38]
Chr18:28660183 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.278G>A (p.Ser93Asn) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014061] Chr18:31092177 [GRCh38]
Chr18:28672140 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2049A>G (p.Pro683=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013970] Chr18:31071681 [GRCh38]
Chr18:28651647 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2125T>A (p.Cys709Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014195] Chr18:31071605 [GRCh38]
Chr18:28651571 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1009A>G (p.Thr337Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014310] Chr18:31082994 [GRCh38]
Chr18:28662960 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2434G>C (p.Gly812Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015337] Chr18:31068968 [GRCh38]
Chr18:28648934 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1820C>T (p.Pro607Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005103362]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016978] Chr18:31074751 [GRCh38]
Chr18:28654717 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1805C>G (p.Pro602Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014163] Chr18:31074766 [GRCh38]
Chr18:28654732 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2057G>A (p.Gly686Asp) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014291] Chr18:31071673 [GRCh38]
Chr18:28651639 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1354G>T (p.Ala452Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014603] Chr18:31080262 [GRCh38]
Chr18:28660228 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1251T>C (p.Leu417=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016160] Chr18:31082250 [GRCh38]
Chr18:28662216 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2470T>G (p.Ser824Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016183] Chr18:31068932 [GRCh38]
Chr18:28648898 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1713T>C (p.Asn571=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013055] Chr18:31074858 [GRCh38]
Chr18:28654824 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2075T>A (p.Leu692His) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013004] Chr18:31071655 [GRCh38]
Chr18:28651621 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.566A>G (p.Glu189Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014856] Chr18:31089503 [GRCh38]
Chr18:28669466 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1376C>T (p.Thr459Ile) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015475] Chr18:31080240 [GRCh38]
Chr18:28660206 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2478G>A (p.Trp826Ter) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013854] Chr18:31068924 [GRCh38]
Chr18:28648890 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1766T>G (p.Met589Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014261] Chr18:31074805 [GRCh38]
Chr18:28654771 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.588_592del (p.Cys197fs) microsatellite Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015971] Chr18:31089477..31089481 [GRCh38]
Chr18:28669440..28669444 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2253T>C (p.Tyr751=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016170] Chr18:31069149 [GRCh38]
Chr18:28649115 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.53T>G (p.Leu18Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014931] Chr18:31101919 [GRCh38]
Chr18:28681882 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.21C>T (p.Ser7=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013392] Chr18:31101951 [GRCh38]
Chr18:28681914 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.200G>A (p.Ser67Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005103284]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013409] Chr18:31092255 [GRCh38]
Chr18:28672218 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2548_2549insT (p.Ala850fs) insertion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016639] Chr18:31068172..31068173 [GRCh38]
Chr18:28648138..28648139 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1684A>G (p.Thr562Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013599] Chr18:31074887 [GRCh38]
Chr18:28654853 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1784T>C (p.Val595Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013639] Chr18:31074787 [GRCh38]
Chr18:28654753 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.401A>C (p.Lys134Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013765]|not provided [RCV004775546] Chr18:31091101 [GRCh38]
Chr18:28671064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.320A>G (p.Lys107Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005064975]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013769] Chr18:31092135 [GRCh38]
Chr18:28672098 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.898A>C (p.Thr300Pro) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014110] Chr18:31086620 [GRCh38]
Chr18:28666583 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2125_2126insA (p.Cys709Ter) insertion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014196] Chr18:31071604..31071605 [GRCh38]
Chr18:28651570..28651571 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1538A>G (p.Asp513Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014411] Chr18:31079972 [GRCh38]
Chr18:28659938 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.475-2A>C single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016043] Chr18:31089596 [GRCh38]
Chr18:28669559 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2701A>G (p.Arg901Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014506] Chr18:31068020 [GRCh38]
Chr18:28647986 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2637T>C (p.Asp879=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016404] Chr18:31068084 [GRCh38]
Chr18:28648050 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1505G>C (p.Ser502Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014869] Chr18:31080111 [GRCh38]
Chr18:28660077 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.475-15A>G single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013309] Chr18:31089609 [GRCh38]
Chr18:28669572 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.416C>T (p.Pro139Leu) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016497] Chr18:31091086 [GRCh38]
Chr18:28671049 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.523G>A (p.Gly175Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013371] Chr18:31089546 [GRCh38]
Chr18:28669509 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.275G>A (p.Arg92Lys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013374] Chr18:31092180 [GRCh38]
Chr18:28672143 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1585G>A (p.Val529Ile) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013376] Chr18:31079925 [GRCh38]
Chr18:28659891 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1518A>G (p.Ile506Met) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013384] Chr18:31080098 [GRCh38]
Chr18:28660064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1502G>A (p.Arg501Lys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005064978]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015132] Chr18:31080114 [GRCh38]
Chr18:28660080 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.703G>A (p.Asp235Asn) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016726] Chr18:31087741 [GRCh38]
Chr18:28667704 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.353del (p.Lys118fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013552] Chr18:31092102 [GRCh38]
Chr18:28672065 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.397G>T (p.Ala133Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015230] Chr18:31091105 [GRCh38]
Chr18:28671068 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2230G>T (p.Ala744Ser) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016970] Chr18:31070746 [GRCh38]
Chr18:28650712 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.682C>G (p.Pro228Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013835] Chr18:31087762 [GRCh38]
Chr18:28667725 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.521G>C (p.Arg174Thr) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015552] Chr18:31089548 [GRCh38]
Chr18:28669511 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.*1G>A single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015415] Chr18:31068014 [GRCh38]
Chr18:28647980 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2216T>C (p.Val739Ala) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015694] Chr18:31070760 [GRCh38]
Chr18:28650726 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1951del (p.Thr651fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004015695] Chr18:31071779 [GRCh38]
Chr18:28651745 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.754del (p.Ile252fs) deletion Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014202] Chr18:31087690 [GRCh38]
Chr18:28667653 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1063T>G (p.Phe355Val) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014287] Chr18:31082940 [GRCh38]
Chr18:28662906 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2009A>G (p.Asp670Gly) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016176] Chr18:31071721 [GRCh38]
Chr18:28651687 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.119C>G (p.Pro40Arg) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013109] Chr18:31093594 [GRCh38]
Chr18:28673557 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2250+1G>T single nucleotide variant Cardiovascular phenotype [RCV004619878] Chr18:31070725 [GRCh38]
Chr18:28650691 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NC_000018.9:g.(?_28647981)_(29178638_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV004579813] Chr18:28647981..29178638 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1936T>C (p.Tyr646His) single nucleotide variant Cardiovascular phenotype [RCV004619880] Chr18:31071794 [GRCh38]
Chr18:28651760 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1709T>C (p.Val570Ala) single nucleotide variant Cardiovascular phenotype [RCV004619884] Chr18:31074862 [GRCh38]
Chr18:28654828 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1653A>C (p.Ala551=) single nucleotide variant Cardiovascular phenotype [RCV004619881] Chr18:31079857 [GRCh38]
Chr18:28659823 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1390G>T (p.Asp464Tyr) single nucleotide variant Cardiovascular phenotype [RCV004619885] Chr18:31080226 [GRCh38]
Chr18:28660192 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.354+3A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV004593579] Chr18:31092098 [GRCh38]
Chr18:28672061 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.703G>T (p.Asp235Tyr) single nucleotide variant not provided [RCV004697555] Chr18:31087741 [GRCh38]
Chr18:28667704 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.593C>T (p.Thr198Ile) single nucleotide variant not provided [RCV004697556] Chr18:31089476 [GRCh38]
Chr18:28669439 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1431T>C (p.Thr477=) single nucleotide variant not provided [RCV004598880] Chr18:31080185 [GRCh38]
Chr18:28660151 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1336G>A (p.Glu446Lys) single nucleotide variant Cardiovascular phenotype [RCV004619883] Chr18:31080280 [GRCh38]
Chr18:28660246 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2460A>G (p.Arg820=) single nucleotide variant Cardiovascular phenotype [RCV004619879] Chr18:31068942 [GRCh38]
Chr18:28648908 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.87T>C (p.Ser29=) single nucleotide variant not provided [RCV004779733] Chr18:31093626 [GRCh38]
Chr18:28673589 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1755C>T (p.Cys585=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005103656]|DSC2-related disorder [RCV004724326] Chr18:31074816 [GRCh38]
Chr18:28654782 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.52C>T (p.Leu18Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005105015]|not provided [RCV004781090] Chr18:31101920 [GRCh38]
Chr18:28681883 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.959A>G (p.Gln320Arg) single nucleotide variant not provided [RCV004781240] Chr18:31083044 [GRCh38]
Chr18:28663010 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1580_1583del (p.Ile527fs) microsatellite not provided [RCV004722105] Chr18:31079927..31079930 [GRCh38]
Chr18:28659893..28659896 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.510C>G (p.Tyr170Ter) single nucleotide variant not provided [RCV004727482] Chr18:31089559 [GRCh38]
Chr18:28669522 [GRCh37]
Chr18:18q12.1		 likely pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV004801487] Chr18:23614482..49306881 [GRCh38]
Chr18:18q11.2-21.1		 pathogenic
NM_024422.6(DSC2):c.1443A>G (p.Lys481=) single nucleotide variant DSC2-related disorder [RCV004748322] Chr18:31080173 [GRCh38]
Chr18:28660139 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1042G>A (p.Val348Ile) single nucleotide variant Cardiovascular phenotype [RCV004996651] Chr18:31082961 [GRCh38]
Chr18:28662927 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1160C>A (p.Ala387Asp) single nucleotide variant Cardiovascular phenotype [RCV004996648] Chr18:31082341 [GRCh38]
Chr18:28662307 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2388C>T (p.Ser796=) single nucleotide variant Cardiovascular phenotype [RCV004996649] Chr18:31069014 [GRCh38]
Chr18:28648980 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2078G>T (p.Gly693Val) single nucleotide variant Cardiovascular phenotype [RCV004996650] Chr18:31071652 [GRCh38]
Chr18:28651618 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1040del (p.Asp347fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005000621] Chr18:31082963 [GRCh38]
Chr18:28662929 [GRCh37]
Chr18:18q12.1		 likely pathogenic
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 copy number gain not provided [RCV004819319] Chr18:19309942..78014123 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q11.2-12.1(chr18:21553578-32172480)x1 copy number loss not provided [RCV004819393] Chr18:21553578..32172480 [GRCh37]
Chr18:18q11.2-12.1		 pathogenic
NM_024422.6(DSC2):c.1027A>T (p.Ile343Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005065951] Chr18:31082976 [GRCh38]
Chr18:28662942 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1246G>T (p.Val416Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005147156] Chr18:31082255 [GRCh38]
Chr18:28662221 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2495C>T (p.Pro832Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005062437] Chr18:31068907 [GRCh38]
Chr18:28648873 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.70-19A>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005087021] Chr18:31093662 [GRCh38]
Chr18:28673625 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+13G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005062615] Chr18:31074670 [GRCh38]
Chr18:28654636 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2387C>A (p.Ser796Tyr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005086217] Chr18:31069015 [GRCh38]
Chr18:28648981 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1609G>T (p.Ala537Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005195306] Chr18:31079901 [GRCh38]
Chr18:28659867 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.183A>G (p.Ala61=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005065655] Chr18:31092272 [GRCh38]
Chr18:28672235 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1888+13G>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005064490] Chr18:31074670 [GRCh38]
Chr18:28654636 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1625del (p.Asn542fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005195614] Chr18:31079885 [GRCh38]
Chr18:28659851 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.187C>G (p.Leu63Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005170376] Chr18:31092268 [GRCh38]
Chr18:28672231 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2695A>G (p.Met899Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005148543] Chr18:31068026 [GRCh38]
Chr18:28647992 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1293G>A (p.Met431Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005162045] Chr18:31080323 [GRCh38]
Chr18:28660289 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1664-1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005114601] Chr18:31074908 [GRCh38]
Chr18:28654874 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1476A>T (p.Gly492=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005073710] Chr18:31080140 [GRCh38]
Chr18:28660106 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.168G>A (p.Glu56=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005186880] Chr18:31092287 [GRCh38]
Chr18:28672250 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.567G>C (p.Glu189Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005131581] Chr18:31089502 [GRCh38]
Chr18:28669465 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2125+11A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005157449] Chr18:31071594 [GRCh38]
Chr18:28651560 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1747A>G (p.Ile583Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005153171] Chr18:31074824 [GRCh38]
Chr18:28654790 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.776-4C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005186478] Chr18:31086746 [GRCh38]
Chr18:28666709 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1479T>C (p.Tyr493=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005164623] Chr18:31080137 [GRCh38]
Chr18:28660103 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1891A>G (p.Thr631Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005068739] Chr18:31071839 [GRCh38]
Chr18:28651805 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2040T>C (p.Arg680=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005140245] Chr18:31071690 [GRCh38]
Chr18:28651656 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.155-19C>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005191881] Chr18:31092319 [GRCh38]
Chr18:28672282 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.417A>G (p.Pro139=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005073228] Chr18:31091085 [GRCh38]
Chr18:28671048 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.121T>G (p.Ser41Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005190690] Chr18:31093592 [GRCh38]
Chr18:28673555 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1791T>C (p.Val597=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005127956] Chr18:31074780 [GRCh38]
Chr18:28654746 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2588G>C (p.Gly863Ala) single nucleotide variant not specified [RCV005238643] Chr18:31068133 [GRCh38]
Chr18:28648099 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1314del (p.Asn439fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005201509] Chr18:31080302 [GRCh38]
Chr18:28660268 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2547T>C (p.His849=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005152251] Chr18:31068174 [GRCh38]
Chr18:28648140 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1520+11T>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005198485] Chr18:31080085 [GRCh38]
Chr18:28660051 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.63C>G (p.Thr21=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005073239] Chr18:31101909 [GRCh38]
Chr18:28681872 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.459A>G (p.Pro153=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005161956] Chr18:31091043 [GRCh38]
Chr18:28671006 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.835C>A (p.Arg279Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005176439] Chr18:31086683 [GRCh38]
Chr18:28666646 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.69+5G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005150240] Chr18:31101898 [GRCh38]
Chr18:28681861 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.636T>C (p.Ile212=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005117907] Chr18:31087808 [GRCh38]
Chr18:28667771 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1663+1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005187455] Chr18:31079846 [GRCh38]
Chr18:28659812 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1247T>G (p.Val416Gly) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005166353] Chr18:31082254 [GRCh38]
Chr18:28662220 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1888+3A>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005127793] Chr18:31074680 [GRCh38]
Chr18:28654646 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1974G>A (p.Met658Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005202817] Chr18:31071756 [GRCh38]
Chr18:28651722 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2639G>C (p.Gly880Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005119046] Chr18:31068082 [GRCh38]
Chr18:28648048 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2529A>G (p.Gln843=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005149524] Chr18:31068192 [GRCh38]
Chr18:28648158 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1571C>T (p.Thr524Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005188662] Chr18:31079939 [GRCh38]
Chr18:28659905 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2679A>G (p.Thr893=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005144438] Chr18:31068042 [GRCh38]
Chr18:28648008 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.788G>A (p.Gly263Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005164852] Chr18:31086730 [GRCh38]
Chr18:28666693 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1865T>C (p.Met622Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005194100] Chr18:31074706 [GRCh38]
Chr18:28654672 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1377T>A (p.Thr459=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005144742] Chr18:31080239 [GRCh38]
Chr18:28660205 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1114G>T (p.Glu372Ter) single nucleotide variant not provided [RCV005244777] Chr18:31082387 [GRCh38]
Chr18:28662353 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1371A>C (p.Thr457=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005140364] Chr18:31080245 [GRCh38]
Chr18:28660211 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2251-2A>T single nucleotide variant not provided [RCV005244908] Chr18:31069153 [GRCh38]
Chr18:28649119 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1831dup (p.Ser611fs) duplication Arrhythmogenic right ventricular dysplasia 11 [RCV005167365] Chr18:31074739..31074740 [GRCh38]
Chr18:28654705..28654706 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2167A>G (p.Lys723Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005178528] Chr18:31070809 [GRCh38]
Chr18:28650775 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2508+16T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005140606] Chr18:31068878 [GRCh38]
Chr18:28648844 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.775+6T>C single nucleotide variant not provided [RCV005234202] Chr18:31087663 [GRCh38]
Chr18:28667626 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.631-16T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005135399] Chr18:31087829 [GRCh38]
Chr18:28667792 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.631-4A>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005169892] Chr18:31087817 [GRCh38]
Chr18:28667780 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.937A>C (p.Arg313=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005134030] Chr18:31086581 [GRCh38]
Chr18:28666544 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.744T>A (p.Tyr248Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005164479] Chr18:31087700 [GRCh38]
Chr18:28667663 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2365GGA[3] (p.Gly790_His791insGly) microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV005140548] Chr18:31069031..31069032 [GRCh38]
Chr18:28648997..28648998 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1989A>C (p.Ser663=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005076216] Chr18:31071741 [GRCh38]
Chr18:28651707 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2398G>C (p.Ala800Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005148692] Chr18:31069004 [GRCh38]
Chr18:28648970 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1326A>C (p.Pro442=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005207179] Chr18:31080290 [GRCh38]
Chr18:28660256 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.684C>T (p.Pro228=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005076339] Chr18:31087760 [GRCh38]
Chr18:28667723 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2646_2647insC (p.Phe883fs) insertion Arrhythmogenic right ventricular dysplasia 11 [RCV005117080] Chr18:31068074..31068075 [GRCh38]
Chr18:28648040..28648041 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.668C>T (p.Pro223Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005163754] Chr18:31087776 [GRCh38]
Chr18:28667739 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1569T>C (p.Asn523=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005163757] Chr18:31079941 [GRCh38]
Chr18:28659907 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2081A>C (p.Lys694Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005120648] Chr18:31071649 [GRCh38]
Chr18:28651615 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1743A>T (p.Thr581=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005078730] Chr18:31074828 [GRCh38]
Chr18:28654794 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1375A>G (p.Thr459Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005153421] Chr18:31080241 [GRCh38]
Chr18:28660207 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1979G>C (p.Ser660Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005161174] Chr18:31071751 [GRCh38]
Chr18:28651717 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.328T>G (p.Phe110Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005194198] Chr18:31092127 [GRCh38]
Chr18:28672090 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.20C>G (p.Ser7Cys) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005077093] Chr18:31101952 [GRCh38]
Chr18:28681915 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2250G>A (p.Val750=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005164938] Chr18:31070726 [GRCh38]
Chr18:28650692 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1386AGA[1] (p.Glu463del) microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV005187505] Chr18:31080225..31080227 [GRCh38]
Chr18:28660191..28660193 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1146C>T (p.Asp382=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005193325] Chr18:31082355 [GRCh38]
Chr18:28662321 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.710A>G (p.Asn237Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005133276] Chr18:31087734 [GRCh38]
Chr18:28667697 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1205G>A (p.Gly402Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005158804] Chr18:31082296 [GRCh38]
Chr18:28662262 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.775+9C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005158863] Chr18:31087660 [GRCh38]
Chr18:28667623 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1931G>A (p.Gly644Asp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005073652] Chr18:31071799 [GRCh38]
Chr18:28651765 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2125+16T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005162431] Chr18:31071589 [GRCh38]
Chr18:28651555 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2076T>C (p.Leu692=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005163423] Chr18:31071654 [GRCh38]
Chr18:28651620 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.120C>T (p.Pro40=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005193481] Chr18:31093593 [GRCh38]
Chr18:28673556 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.94T>A (p.Cys32Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005126883] Chr18:31093619 [GRCh38]
Chr18:28673582 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2205G>A (p.Gln735=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005082231] Chr18:31070771 [GRCh38]
Chr18:28650737 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1664-4C>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005194521] Chr18:31074911 [GRCh38]
Chr18:28654877 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.2094del (p.Ala699fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005131665] Chr18:31071636 [GRCh38]
Chr18:28651602 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.1492C>G (p.Pro498Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005129329] Chr18:31080124 [GRCh38]
Chr18:28660090 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1794T>A (p.Asp598Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005155921] Chr18:31074777 [GRCh38]
Chr18:28654743 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.574A>G (p.Thr192Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005181059] Chr18:31089495 [GRCh38]
Chr18:28669458 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.809A>G (p.Lys270Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005183421] Chr18:31086709 [GRCh38]
Chr18:28666672 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1156A>G (p.Thr386Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005123959] Chr18:31082345 [GRCh38]
Chr18:28662311 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.845del (p.Tyr282fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005115827] Chr18:31086673 [GRCh38]
Chr18:28666636 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.2493G>A (p.Gln831=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005130903] Chr18:31068909 [GRCh38]
Chr18:28648875 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.942+1G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005149380] Chr18:31086575 [GRCh38]
Chr18:28666538 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1664-23TATTTT[3] microsatellite Arrhythmogenic right ventricular dysplasia 11 [RCV005185331] Chr18:31074918..31074919 [GRCh38]
Chr18:28654884..28654885 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1545del (p.Trp517fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005127794] Chr18:31079965 [GRCh38]
Chr18:28659931 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.379G>T (p.Glu127Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005072879] Chr18:31091123 [GRCh38]
Chr18:28671086 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.-35_26del (p.Met1fs) deletion Arrhythmogenic right ventricular dysplasia 11 [RCV005205018] Chr18:31101946..31102006 [GRCh38]
Chr18:28681909..28681969 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1581C>A (p.Ile527=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005154660] Chr18:31079929 [GRCh38]
Chr18:28659895 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.385G>A (p.Val129Ile) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005176209] Chr18:31091117 [GRCh38]
Chr18:28671080 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2280T>A (p.Thr760=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005197094] Chr18:31069122 [GRCh38]
Chr18:28649088 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1889-20T>G single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005205183] Chr18:31071861 [GRCh38]
Chr18:28651827 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.1729A>C (p.Ile577Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005074826] Chr18:31074842 [GRCh38]
Chr18:28654808 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1316A>G (p.Asn439Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005123598] Chr18:31080300 [GRCh38]
Chr18:28660266 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000459183]|Cardiomyopathy [RCV001180031]|Cardiovascular phenotype [RCV000618922]|not provided [RCV001699041]|not specified [RCV000150521] Chr18:31074796 [GRCh38]
Chr18:28654762 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.348A>G (p.Gln116=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV000460259]|Cardiomyopathy [RCV000769502]|Cardiovascular phenotype [RCV000247614]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998187]|not provided [RCV001531281]|not specified [RCV000150526] Chr18:31092107 [GRCh38]
Chr18:28672070 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV001083970]|Cardiomyopathy [RCV001177334]|Cardiovascular phenotype [RCV002408665]|DSC2-related disorder [RCV003907419]|Familial isolated arrhythmogenic right ventricular dysplasia [RCV003998188]|not provided [RCV000725685]|not specified [RCV000150527] Chr18:31092283 [GRCh38]
Chr18:28672246 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024422.6(DSC2):c.357C>A (p.Val119=) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805968] Chr18:31091145 [GRCh38]
Chr18:28671108 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.300C>A (p.Asn100Lys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004805971] Chr18:31092155 [GRCh38]
Chr18:28672118 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1898C>T (p.Ala633Val) single nucleotide variant Cardiomyopathy [RCV001189063] Chr18:31071832 [GRCh38]
Chr18:28651798 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV003146862] Chr18:31092169 [GRCh38]
Chr18:28672132 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1646T>C (p.Val549Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005100628]|Cardiovascular phenotype [RCV004517587] Chr18:31079864 [GRCh38]
Chr18:28659830 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.271_272insCAAT (p.Lys91fs) insertion Cardiovascular phenotype [RCV004517594] Chr18:31092183..31092184 [GRCh38]
Chr18:28672146..28672147 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_024422.6(DSC2):c.330T>C (p.Phe110=) single nucleotide variant Cardiovascular phenotype [RCV004517595] Chr18:31092125 [GRCh38]
Chr18:28672088 [GRCh37]
Chr18:18q12.1		 likely benign
NM_024422.6(DSC2):c.354+2T>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 11 [RCV005100629]|Cardiovascular phenotype [RCV004517596] Chr18:31092099 [GRCh38]
Chr18:28672062 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_024422.6(DSC2):c.1066dup (p.Thr356fs) duplication Familial isolated arrhythmogenic right ventricular dysplasia [RCV004016359] Chr18:31082936..31082937 [GRCh38]
Chr18:28662902..28662903 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.1426C>A (p.Gln476Lys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004014095] Chr18:31080190 [GRCh38]
Chr18:28660156 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_024422.6(DSC2):c.2051G>A (p.Arg684Lys) single nucleotide variant Familial isolated arrhythmogenic right ventricular dysplasia [RCV004013493] Chr18:31071679 [GRCh38]
Chr18:28651645 [GRCh37]
Chr18:18q12.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1998
Count of miRNA genes:535
Interacting mature miRNAs:594
Transcripts:ENST00000251081, ENST00000280904
Prediction methods:Microtar, Miranda, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597300299GWAS1396373_Hdesmocollin-2 measurement QTL GWAS1396373 (human)2e-13desmocollin-2 measurement183109395031093951Human
597432686GWAS1528760_Hprotein measurement QTL GWAS1528760 (human)2e-36protein measurement183109124931091250Human
597171775GWAS1267849_Hdesmocollin-2 measurement QTL GWAS1267849 (human)5e-25desmocollin-2 measurement183107758731077588Human
406957645GWAS606621_Hbronchopulmonary dysplasia QTL GWAS606621 (human)0.000007bronchopulmonary dysplasia183105958231059583Human
597273621GWAS1369695_Hdesmocollin-2 measurement QTL GWAS1369695 (human)1e-15desmocollin-2 measurement183110150531101507Human

Markers in Region
RH93906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371828,646,027 - 28,646,193UniSTSGRCh37
Build 361826,900,025 - 26,900,191RGDNCBI36
Celera1825,454,187 - 25,454,353RGD
Cytogenetic Map18q12.1UniSTS
HuRef1825,501,885 - 25,502,051UniSTS
GeneMap99-GB4 RH Map18247.98UniSTS
RH18110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371828,647,620 - 28,647,767UniSTSGRCh37
Build 361826,901,618 - 26,901,765RGDNCBI36
Celera1825,455,780 - 25,455,927RGD
Cytogenetic Map18q12.1UniSTS
HuRef1825,503,478 - 25,503,625UniSTS
D18S963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371828,659,026 - 28,659,166UniSTSGRCh37
Build 361826,913,024 - 26,913,164RGDNCBI36
Celera1825,467,188 - 25,467,328RGD
Cytogenetic Map18q12.1UniSTS
HuRef1825,514,880 - 25,515,020UniSTS
GDB:185730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371828,647,986 - 28,648,102UniSTSGRCh37
Build 361826,901,984 - 26,902,100RGDNCBI36
Celera1825,456,146 - 25,456,262RGD
Cytogenetic Map18q12.1UniSTS
HuRef1825,503,844 - 25,503,960UniSTS
DSC2_1254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371828,647,296 - 28,648,165UniSTSGRCh37
Build 361826,901,294 - 26,902,163RGDNCBI36
Celera1825,455,456 - 25,456,325RGD
HuRef1825,503,154 - 25,504,023UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2243 4904 1721 2329 5 624 1826 465 2243 7174 6346 28 3683 1 847 1736 1594 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE350090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE813598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU735677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS456343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS456345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC382631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF017811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF017812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF017813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF573685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000251081   ⟹   ENSP00000251081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,058,840 - 31,102,421 (-)Ensembl
Ensembl Acc Id: ENST00000280904   ⟹   ENSP00000280904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,058,840 - 31,102,421 (-)Ensembl
Ensembl Acc Id: ENST00000648081   ⟹   ENSP00000497441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,998 - 31,102,522 (-)Ensembl
Ensembl Acc Id: ENST00000682357   ⟹   ENSP00000507826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,998 - 31,102,503 (-)Ensembl
Ensembl Acc Id: ENST00000713681   ⟹   ENSP00000518984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,974 - 31,101,744 (-)Ensembl
Ensembl Acc Id: ENST00000713682   ⟹   ENSP00000518985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,102,432 (-)Ensembl
Ensembl Acc Id: ENST00000713683   ⟹   ENSP00000518986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,102,600 (-)Ensembl
Ensembl Acc Id: ENST00000713684   ⟹   ENSP00000518987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,066,040 - 31,102,458 (-)Ensembl
Ensembl Acc Id: ENST00000713685   ⟹   ENSP00000518988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,058,545 - 31,102,439 (-)Ensembl
Ensembl Acc Id: ENST00000713686   ⟹   ENSP00000518990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,093,515 - 31,102,421 (-)Ensembl
Ensembl Acc Id: ENST00000713702   ⟹   ENSP00000519005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,972 - 31,102,419 (-)Ensembl
Ensembl Acc Id: ENST00000713703   ⟹   ENSP00000519006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,972 - 31,102,424 (-)Ensembl
Ensembl Acc Id: ENST00000713704   ⟹   ENSP00000519007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,102,125 (-)Ensembl
Ensembl Acc Id: ENST00000713705   ⟹   ENSP00000519008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,102,363 (-)Ensembl
Ensembl Acc Id: ENST00000713706   ⟹   ENSP00000519009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,102,419 (-)Ensembl
Ensembl Acc Id: ENST00000713707   ⟹   ENSP00000519010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,102,423 (-)Ensembl
Ensembl Acc Id: ENST00000713708   ⟹   ENSP00000519011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,066,403 - 31,102,424 (-)Ensembl
Ensembl Acc Id: ENST00000713709   ⟹   ENSP00000519012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,101,257 (-)Ensembl
Ensembl Acc Id: ENST00000713720   ⟹   ENSP00000519023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,975 - 31,102,433 (-)Ensembl
Ensembl Acc Id: ENST00000713721   ⟹   ENSP00000519024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,101,274 (-)Ensembl
Ensembl Acc Id: ENST00000713722   ⟹   ENSP00000519025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,065,976 - 31,102,400 (-)Ensembl
Ensembl Acc Id: ENST00000715724   ⟹   ENSP00000518963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,066,894 - 31,101,530 (-)Ensembl
Ensembl Acc Id: ENST00000715725   ⟹   ENSP00000518989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,067,843 - 31,102,059 (-)Ensembl
Ensembl Acc Id: ENST00000850650   ⟹   ENSP00000518963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,066,894 - 31,101,530 (-)Ensembl
Ensembl Acc Id: ENST00000850651   ⟹   ENSP00000518989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,067,843 - 31,102,059 (-)Ensembl
RefSeq Acc Id: NM_001406506   ⟹   NP_001393435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,058,840 - 31,101,260 (-)NCBI
T2T-CHM13v2.01831,249,110 - 31,291,509 (-)NCBI
RefSeq Acc Id: NM_001406507   ⟹   NP_001393436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,058,840 - 31,101,260 (-)NCBI
T2T-CHM13v2.01831,249,110 - 31,291,509 (-)NCBI
RefSeq Acc Id: NM_004949   ⟹   NP_004940
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,058,840 - 31,102,421 (-)NCBI
GRCh371828,645,938 - 28,682,388 (-)NCBI
Build 361826,900,004 - 26,936,375 (-)NCBI Archive
HuRef1825,501,800 - 25,538,229 (-)ENTREZGENE
CHM1_11828,572,975 - 28,609,431 (-)NCBI
T2T-CHM13v2.01831,249,110 - 31,292,671 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024422   ⟹   NP_077740
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,058,840 - 31,102,421 (-)NCBI
GRCh371828,645,938 - 28,682,388 (-)NCBI
Build 361826,900,004 - 26,936,375 (-)NCBI Archive
HuRef1825,501,800 - 25,538,229 (-)ENTREZGENE
CHM1_11828,572,975 - 28,609,431 (-)NCBI
T2T-CHM13v2.01831,249,110 - 31,292,671 (-)NCBI
Sequence:
RefSeq Acc Id: NP_077740   ⟸   NM_024422
- Peptide Label: isoform Dsc2a preproprotein
- UniProtKB: Q02487 (UniProtKB/Swiss-Prot),   A8K2P8 (UniProtKB/TrEMBL),   A9X9K9 (UniProtKB/TrEMBL),   A9X9L0 (UniProtKB/TrEMBL),   A0AAQ5BGQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004940   ⟸   NM_004949
- Peptide Label: isoform Dsc2b preproprotein
- UniProtKB: A0AAQ5BGP1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497441   ⟸   ENST00000648081
Ensembl Acc Id: ENSP00000280904   ⟸   ENST00000280904
Ensembl Acc Id: ENSP00000251081   ⟸   ENST00000251081
Ensembl Acc Id: ENSP00000507826   ⟸   ENST00000682357
RefSeq Acc Id: NP_001393435   ⟸   NM_001406506
- Peptide Label: isoform 3
- UniProtKB: A0A3B3ISU0 (UniProtKB/TrEMBL),   Q63HM4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393436   ⟸   NM_001406507
- Peptide Label: isoform 4
- UniProtKB: A0AAQ5BGT5 (UniProtKB/TrEMBL),   Q63HM4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000519006   ⟸   ENST00000713703
Ensembl Acc Id: ENSP00000518984   ⟸   ENST00000713681
Ensembl Acc Id: ENSP00000518985   ⟸   ENST00000713682
Ensembl Acc Id: ENSP00000519009   ⟸   ENST00000713706
Ensembl Acc Id: ENSP00000518988   ⟸   ENST00000713685
Ensembl Acc Id: ENSP00000519023   ⟸   ENST00000713720
Ensembl Acc Id: ENSP00000519025   ⟸   ENST00000713722
Ensembl Acc Id: ENSP00000519012   ⟸   ENST00000713709
Ensembl Acc Id: ENSP00000519011   ⟸   ENST00000713708
Ensembl Acc Id: ENSP00000519007   ⟸   ENST00000713704
Ensembl Acc Id: ENSP00000519010   ⟸   ENST00000713707
Ensembl Acc Id: ENSP00000518990   ⟸   ENST00000713686
Ensembl Acc Id: ENSP00000518987   ⟸   ENST00000713684
Ensembl Acc Id: ENSP00000518986   ⟸   ENST00000713683
Ensembl Acc Id: ENSP00000518963   ⟸   ENST00000715724
Ensembl Acc Id: ENSP00000518989   ⟸   ENST00000715725
Ensembl Acc Id: ENSP00000519024   ⟸   ENST00000713721
Ensembl Acc Id: ENSP00000519005   ⟸   ENST00000713702
Ensembl Acc Id: ENSP00000519008   ⟸   ENST00000713705
Ensembl Acc Id: ENSP00000518989   ⟸   ENST00000850651
Ensembl Acc Id: ENSP00000518963   ⟸   ENST00000850650
Protein Domains
Cadherin   Cadherin prodomain

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02487-F1-model_v2 AlphaFold Q02487 1-901 view protein structure

Promoters
RGD ID:6794831
Promoter ID:HG_KWN:27823
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000399347
Position:
Human AssemblyChrPosition (strand)Source
Build 361826,935,866 - 26,936,366 (-)MPROMDB
RGD ID:7237111
Promoter ID:EPDNEW_H24301
Type:initiation region
Name:DSC2_2
Description:desmocollin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24303  EPDNEW_H24302  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,102,095 - 31,102,155EPDNEW
RGD ID:7237115
Promoter ID:EPDNEW_H24302
Type:initiation region
Name:DSC2_3
Description:desmocollin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24301  EPDNEW_H24303  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,102,311 - 31,102,371EPDNEW
RGD ID:7237113
Promoter ID:EPDNEW_H24303
Type:initiation region
Name:DSC2_1
Description:desmocollin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24301  EPDNEW_H24302  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,102,421 - 31,102,481EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3036 AgrOrtholog
COSMIC DSC2 COSMIC
Ensembl Genes ENSG00000134755 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000251081 ENTREZGENE
  ENST00000251081.8 UniProtKB/Swiss-Prot
  ENST00000280904 ENTREZGENE
  ENST00000280904.11 UniProtKB/Swiss-Prot
  ENST00000713709 ENTREZGENE
  ENST00000850650 ENTREZGENE
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot
  Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000134755 GTEx
HGNC ID HGNC:3036 ENTREZGENE
Human Proteome Map DSC2 Human Proteome Map
InterPro Cadherin-domain_protein UniProtKB/Swiss-Prot
  Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_cytoplasmic-dom UniProtKB/Swiss-Prot
  Cadherin_pro_dom UniProtKB/Swiss-Prot
  Catenin_binding_dom_sf UniProtKB/Swiss-Prot
  Desmosomal_cadherin UniProtKB/Swiss-Prot
KEGG Report hsa:1824 UniProtKB/Swiss-Prot
NCBI Gene 1824 ENTREZGENE
OMIM 125645 OMIM
PANTHER DESMOCOLLIN-2 UniProtKB/Swiss-Prot
  DESMOGLEIN FAMILY MEMBER UniProtKB/Swiss-Prot
Pfam Cadherin UniProtKB/Swiss-Prot
  Cadherin_C UniProtKB/Swiss-Prot
  Cadherin_pro UniProtKB/Swiss-Prot
PharmGKB PA27489 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
  DESMOCADHERN UniProtKB/Swiss-Prot
  DESMOCOLLIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
SMART Cadherin_pro UniProtKB/Swiss-Prot
  SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot
UniProt A0A3B3ISU0 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGM2_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGP1 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGP4_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGP6_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGQ1_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGQ3 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGQ5_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGR2_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGR6_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGR7_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGT1_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGT3_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGT5 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGU5_HUMAN UniProtKB/TrEMBL
  A8K2P8 ENTREZGENE, UniProtKB/TrEMBL
  A9X9K9 ENTREZGENE, UniProtKB/TrEMBL
  A9X9L0 ENTREZGENE, UniProtKB/TrEMBL
  A9X9L1_HUMAN UniProtKB/TrEMBL
  DSC2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q63HM4 ENTREZGENE, UniProtKB/TrEMBL