DSG2-AS1 (DSG2 antisense RNA 1) - Chinchilla Research Resource Database
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Gene: DSG2-AS1 (DSG2 antisense RNA 1) Homo sapiens
Analyze
Symbol: DSG2-AS1
Name: DSG2 antisense RNA 1
CRRD ID: 9586420
Description: ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 10; cardiac arrest; INTERACTS WITH cisplatin; nickel atom
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1831,542,146 - 31,556,948 (-)EnsemblGRCh38hg38GRCh38
GRCh381831,542,146 - 31,556,911 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371829,122,109 - 29,136,874 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map18q12.1NCBI
HuRef1825,979,055 - 25,993,820 (-)NCBIHuRef
CHM1_11829,049,417 - 29,064,183 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:12477932  


Genomics

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:218
Count of miRNA genes:197
Interacting mature miRNAs:203
Transcripts:ENST00000579251, ENST00000583706
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3
Low 478 8 153 118 115 101 138 1 13 157 510 165 23 15 1
Below cutoff 1022 1024 1335 475 424 339 2325 852 1068 225 675 1240 141 1081 1116 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000579251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1831,550,132 - 31,556,905 (-)Ensembl
RefSeq Acc Id: ENST00000583706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1831,542,146 - 31,556,911 (-)Ensembl
RefSeq Acc Id: ENST00000657343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1831,545,349 - 31,556,876 (-)Ensembl
RefSeq Acc Id: ENST00000664179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1831,550,211 - 31,556,948 (-)Ensembl
RefSeq Acc Id: NR_045216
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,542,146 - 31,556,911 (-)NCBI
HuRef1825,979,055 - 25,993,820 (-)NCBI
CHM1_11829,049,417 - 29,064,183 (-)NCBI
Sequence:
Promoters
RGD ID:15097141
Promoter ID:EPDNEWNC_H1979
Type:initiation region
Name:DSG2-AS1_1
Description:DSG2 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:51311]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,556,948 - 31,557,008EPDNEWNC

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001943.5(DSG2):c.2997G>A (p.Ser999=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000548345]|Cardiomyopathy [RCV001183482] Chr18:31546383 [GRCh38]
Chr18:29126346 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3111del (p.Asn1037fs) deletion Cardiomyopathy [RCV000774114] Chr18:31546497 [GRCh38]
Chr18:29126460 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2536G>T (p.Asp846Tyr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000559043] Chr18:31545922 [GRCh38]
Chr18:29125885 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001084577]|Cardiomyopathy [RCV000029669]|Restrictive cardiomyopathy [RCV000852743]|not provided [RCV000845405]|not specified [RCV000037291] Chr18:31546033 [GRCh38]
Chr18:29125996 [GRCh37]
Chr18:18q12.1
likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000037286]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000018307]|Cardiomyopathy [RCV001183802]|Cardiovascular phenotype [RCV000618751]|not specified [RCV001195104] Chr18:31545820 [GRCh38]
Chr18:29125783 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001084604]|Cardiomyopathy [RCV000029670]|Restrictive cardiomyopathy [RCV000852744]|not provided [RCV000845406]|not specified [RCV000037293] Chr18:31546094 [GRCh38]
Chr18:29126057 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000228156]|Cardiac arrhythmia [RCV000029671]|Cardiomyopathy [RCV000769521]|not specified [RCV000037298] Chr18:31546521 [GRCh38]
Chr18:29126484 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.3055_3056AG[3] (p.Ser1021fs) microsatellite Arrhythmogenic right ventricular cardiomyopathy [RCV000037297]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642319] Chr18:31546441..31546442 [GRCh38]
Chr18:29126404..29126405 [GRCh37]
Chr18:18q12.1
likely pathogenic|uncertain significance
NM_001943.3(DSG2):c.2528A>G (p.Gln843Arg) single nucleotide variant Malignant melanoma [RCV000071807] Chr18:31545914 [GRCh38]
Chr18:29125877 [GRCh37]
Chr18:27379875 [NCBI36]
Chr18:18q12.1
not provided
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000227265]|Cardiomyopathy [RCV000776292]|not specified [RCV000037282] Chr18:31542729 [GRCh38]
Chr18:29122692 [GRCh37]
Chr18:18q12.1
benign
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000371577]|Cardiomyopathy [RCV000775997]|Cardiovascular phenotype [RCV000248706]|not specified [RCV000037287] Chr18:31545891 [GRCh38]
Chr18:29125854 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000233928]|Cardiomyopathy [RCV000771363]|not specified [RCV000037288] Chr18:31545972 [GRCh38]
Chr18:29125935 [GRCh37]
Chr18:18q12.1
benign
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000463983]|Cardiomyopathy [RCV000769516]|Cardiovascular phenotype [RCV000620514]|not specified [RCV000037289] Chr18:31545973 [GRCh38]
Chr18:29125936 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000468913]|Cardiomyopathy [RCV000769517]|Cardiovascular phenotype [RCV000620707]|not specified [RCV000037290] Chr18:31546029 [GRCh38]
Chr18:29125992 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000468428]|Cardiomyopathy [RCV001175838]|not specified [RCV000124809] Chr18:31546089 [GRCh38]
Chr18:29126052 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000231454]|Cardiomyopathy [RCV000776293]|Cardiovascular phenotype [RCV000617277]|not specified [RCV000037295] Chr18:31546272 [GRCh38]
Chr18:29126235 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.2100C>T (p.Ser700=) single nucleotide variant not specified [RCV000037279] Chr18:31542618 [GRCh38]
Chr18:29122581 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000172746]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001094500]|Cardiomyopathy [RCV000776008]|Cardiovascular phenotype [RCV000246238]|not specified [RCV000037280] Chr18:31542655 [GRCh38]
Chr18:29122618 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001056749]|Cardiomyopathy [RCV001189712]|not specified [RCV000037283] Chr18:31542730 [GRCh38]
Chr18:29122693 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000383454]|Cardiomyopathy [RCV000775993]|Cardiovascular phenotype [RCV000242776]|not specified [RCV000037285] Chr18:31542836 [GRCh38]
Chr18:29122799 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000148473]|Arrhythmogenic right ventricular cardiomyopathy [RCV000852745]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000755252]|Cardiomyopathy [RCV000776064]|Cardiovascular phenotype [RCV000245262]|not specified [RCV000037294] Chr18:31546145 [GRCh38]
Chr18:29126108 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000473314]|Cardiomyopathy [RCV000769519]|Cardiovascular phenotype [RCV000242473]|Dilated cardiomyopathy [RCV000171834]|not provided [RCV000590405]|not specified [RCV000037296] Chr18:31546426 [GRCh38]
Chr18:29126389 [GRCh37]
Chr18:27380387 [NCBI36]
Chr18:18q12.1
likely pathogenic|uncertain significance
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) single nucleotide variant not specified [RCV000037299] Chr18:31546526 [GRCh38]
Chr18:29126489 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001083740]|Cardiomyopathy [RCV000769523]|Cardiovascular phenotype [RCV000247536]|not provided [RCV000756039]|not specified [RCV000037300] Chr18:31546629 [GRCh38]
Chr18:29126592 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001086554]|Cardiomyopathy [RCV000777813]|Cardiovascular phenotype [RCV000621087]|not provided [RCV000727377]|not specified [RCV000037301] Chr18:31546630 [GRCh38]
Chr18:29126593 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001082544]|Cardiomyopathy [RCV000771829]|Cardiovascular phenotype [RCV000622126]|not provided [RCV000845296]|not specified [RCV000037302] Chr18:31546681 [GRCh38]
Chr18:29126644 [GRCh37]
Chr18:18q12.1
benign|likely benign|uncertain significance
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000320154]|Cardiomyopathy [RCV000771038]|Cardiovascular phenotype [RCV000249672]|not specified [RCV000037303] Chr18:31546707 [GRCh38]
Chr18:29126670 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.2568A>C (p.Lys856Asn) single nucleotide variant Cardiomyopathy [RCV000769515]|not specified [RCV000172747] Chr18:31545954 [GRCh38]
Chr18:29125917 [GRCh37]
Chr18:18q12.1
benign
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001050763]|Cardiomyopathy [RCV001170381]|not provided [RCV000171906] Chr18:31546652 [GRCh38]
Chr18:29126615 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001223258]|Cardiomyopathy [RCV001179560]|not provided [RCV000171907]|not specified [RCV000214180] Chr18:31546679 [GRCh38]
Chr18:29126642 [GRCh37]
Chr18:18q12.1
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(chr18:31318837-31586401)x3 copy number gain See cases [RCV000139167] Chr18:31318837..31586401 [GRCh38]
Chr18:28898800..29166364 [GRCh37]
Chr18:27152798..27420362 [NCBI36]
Chr18:18q12.1
likely benign
GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3 copy number gain See cases [RCV000140924] Chr18:31173251..31677694 [GRCh38]
Chr18:28753214..29257657 [GRCh37]
Chr18:27007212..27511655 [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
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_001943.5(DSG2):c.3198A>G (p.Glu1066=) single nucleotide variant not specified [RCV000155848] Chr18:31546584 [GRCh38]
Chr18:29126547 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000705050]|Cardiomyopathy [RCV001181125]|not provided [RCV000171269]|not specified [RCV000150543] Chr18:31542823 [GRCh38]
Chr18:29122786 [GRCh37]
Chr18:18q12.1
likely pathogenic|uncertain significance
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000234244]|Cardiomyopathy [RCV000769520]|not specified [RCV000150545] Chr18:31546468 [GRCh38]
Chr18:29126431 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.*2C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001123618]|Cardiomyopathy [RCV000776299]|Cardiovascular phenotype [RCV000250242]|not specified [RCV000150550] Chr18:31546745 [GRCh38]
Chr18:29126708 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000687403]|Cardiomyopathy [RCV001188629]|not specified [RCV000156083] Chr18:31542614 [GRCh38]
Chr18:29122577 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000361252]|Cardiomyopathy [RCV000777763]|not provided [RCV000766739]|not specified [RCV000156101] Chr18:31542752 [GRCh38]
Chr18:29122715 [GRCh37]
Chr18:18q12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000238657]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000802216]|Cardiomyopathy [RCV001183804]|not specified [RCV000150542] Chr18:31542770 [GRCh38]
Chr18:29122733 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000823465]|not specified [RCV000150544] Chr18:31546034 [GRCh38]
Chr18:29125997 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2873_2874CA[1] (p.Gln959fs) microsatellite Cardiomyopathy [RCV001188344]|not specified [RCV000150546] Chr18:31546259..31546260 [GRCh38]
Chr18:29126222..29126223 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) single nucleotide variant Cardiomyopathy [RCV001188345]|not specified [RCV000150547] Chr18:31546346 [GRCh38]
Chr18:29126309 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) single nucleotide variant not specified [RCV000150549] Chr18:31546515 [GRCh38]
Chr18:29126478 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000473272]|Cardiomyopathy [RCV001179552]|Cardiovascular phenotype [RCV000253522]|not specified [RCV000154702] Chr18:31545870 [GRCh38]
Chr18:29125833 [GRCh37]
Chr18:18q12.1
benign|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000701131]|Cardiomyopathy [RCV000769512]|not specified [RCV000154704] Chr18:31542551 [GRCh38]
Chr18:29122514 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) single nucleotide variant not specified [RCV000156849] Chr18:31546144 [GRCh38]
Chr18:29126107 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001086616]|Cardiomyopathy [RCV000771841]|Cardiovascular phenotype [RCV000618561]|not provided [RCV000845294]|not specified [RCV000154627] Chr18:31545754 [GRCh38]
Chr18:29125717 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001079476]|Cardiomyopathy [RCV000771264]|Cardiovascular phenotype [RCV000621371]|not provided [RCV000172531]|not specified [RCV000154705] Chr18:31546595 [GRCh38]
Chr18:29126558 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000171905]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000952596]|Cardiomyopathy [RCV000771354]|not specified [RCV000156218] Chr18:31546561 [GRCh38]
Chr18:29126524 [GRCh37]
Chr18:18q12.1
benign|likely benign|uncertain significance
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) indel Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000467438]|Cardiomyopathy [RCV001179113]|not provided [RCV000587219]|not specified [RCV000156648] Chr18:31546667..31546669 [GRCh38]
Chr18:29126630..29126632 [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 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(chr18:53345-80209986)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 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 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 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 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 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
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
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) single nucleotide variant not specified [RCV000181188] Chr18:31542630 [GRCh38]
Chr18:29122593 [GRCh37]
Chr18:18q12.1
likely benign|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) single nucleotide variant Cardiomyopathy [RCV000778024]|not specified [RCV000181190] Chr18:31546136 [GRCh38]
Chr18:29126099 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) single nucleotide variant Cardiomyopathy [RCV001189657]|not specified [RCV000181192] Chr18:31546266 [GRCh38]
Chr18:29126229 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642312]|Cardiomyopathy [RCV001183736]|not specified [RCV000181194] Chr18:31546504 [GRCh38]
Chr18:29126467 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) deletion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000687936]|not provided [RCV000181209] Chr18:31546308 [GRCh38]
Chr18:29126271 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic
NM_001943.5(DSG2):c.2155G>A (p.Glu719Lys) single nucleotide variant not provided [RCV000181229] Chr18:31542673 [GRCh38]
Chr18:29122636 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) single nucleotide variant Cardiomyopathy [RCV001187621]|not provided [RCV000505715] Chr18:31545785 [GRCh38]
Chr18:29125748 [GRCh37]
Chr18:18q12.1
likely pathogenic|uncertain significance
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000456354]|Cardiomyopathy [RCV001182503]|Cardiovascular phenotype [RCV000620437]|not provided [RCV000181231] Chr18:31545820 [GRCh38]
Chr18:29125783 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000796747]|not provided [RCV000181232] Chr18:31546076 [GRCh38]
Chr18:29126039 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001081796]|Cardiomyopathy [RCV001188882]|not provided [RCV000181233] Chr18:31546166 [GRCh38]
Chr18:29126129 [GRCh37]
Chr18:18q12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000202735]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642340]|Cardiomyopathy [RCV000771781] Chr18:31546292 [GRCh38]
Chr18:29126255 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000697639]|Cardiomyopathy [RCV000769522]|not provided [RCV000766868]|not specified [RCV000181236] Chr18:31546553 [GRCh38]
Chr18:29126516 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2646_2648CTC[1] (p.Ser884del) microsatellite Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000459513]|not provided [RCV000181244] Chr18:31546032..31546034 [GRCh38]
Chr18:29125995..29125997 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) microsatellite Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000560883]|Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10 [RCV001258113]|Cardiomyopathy [RCV000852476]|Cardiovascular phenotype [RCV000242452]|Dilated cardiomyopathy 1BB [RCV000496000]|Primary dilated cardiomyopathy [RCV000208503] Chr18:31546441..31546444 [GRCh38]
Chr18:29126404..29126407 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter) single nucleotide variant not provided [RCV000181249] Chr18:31542833 [GRCh38]
Chr18:29122796 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic
NM_001943.5(DSG2):c.2368_2369CA[2] (p.Thr791fs) microsatellite not provided [RCV000181250] Chr18:31545754..31545755 [GRCh38]
Chr18:29125717..29125718 [GRCh37]
Chr18:18q12.1
pathogenic
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642314]|Cardiomyopathy [RCV001184497]|not provided [RCV000181251]|not specified [RCV001193616] Chr18:31545746 [GRCh38]
Chr18:29125709 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2548G>C (p.Glu850Gln) single nucleotide variant not provided [RCV000181252] Chr18:31545934 [GRCh38]
Chr18:29125897 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2827G>C (p.Gly943Arg) single nucleotide variant Cardiomyopathy [RCV001180720] Chr18:31546213 [GRCh38]
Chr18:29126176 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3228G>A (p.Val1076=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000549438]|Cardiomyopathy [RCV001180364]|not provided [RCV000996670] Chr18:31546614 [GRCh38]
Chr18:29126577 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3265G>A (p.Gly1089Ser) single nucleotide variant Ventricular fibrillation [RCV000208138] Chr18:31546651 [GRCh38]
Chr18:29126614 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001125611]|Conduction disorder of the heart [RCV001256688]|Primary familial hypertrophic cardiomyopathy [RCV000208301] Chr18:31546009 [GRCh38]
Chr18:29125972 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) single nucleotide variant Cardiomyopathy [RCV001187851]|Primary familial hypertrophic cardiomyopathy [RCV000208311] Chr18:31542628 [GRCh38]
Chr18:29122591 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2335-7A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000208322] Chr18:31545714 [GRCh38]
Chr18:29125677 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) single nucleotide variant Cardiac arrest [RCV000208434]|Cardiomyopathy [RCV001192093] Chr18:31542706 [GRCh38]
Chr18:29122669 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2664C>A (p.Phe888Leu) single nucleotide variant Long QT syndrome [RCV000208481] Chr18:31546050 [GRCh38]
Chr18:29126013 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000208116]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000467261]|Cardiomyopathy [RCV001188678]|not specified [RCV000494451] Chr18:31542710 [GRCh38]
Chr18:29122673 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000795727]|Cardiomyopathy [RCV000771971]|not specified [RCV000223557] Chr18:31542788 [GRCh38]
Chr18:29122751 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642333]|Cardiomyopathy [RCV000771964]|Cardiovascular phenotype [RCV000619941]|not specified [RCV000219803] Chr18:31545856 [GRCh38]
Chr18:29125819 [GRCh37]
Chr18:18q12.1
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) single nucleotide variant Cardiomyopathy [RCV001187397]|not specified [RCV000216642] Chr18:31545854 [GRCh38]
Chr18:29125817 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2127T>C (p.His709=) single nucleotide variant not provided [RCV000928059]|not specified [RCV000219049] Chr18:31542645 [GRCh38]
Chr18:29122608 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2085G>C (p.Thr695=) single nucleotide variant not provided [RCV000553488] Chr18:31542603 [GRCh38]
Chr18:29122566 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001065502]|Cardiomyopathy [RCV001180343]|not provided [RCV000757179]|not specified [RCV000781332] Chr18:31542602 [GRCh38]
Chr18:29122565 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3354C>G (p.Ser1118=) single nucleotide variant not provided [RCV000235879] Chr18:31546740 [GRCh38]
Chr18:29126703 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) single nucleotide variant Cardiovascular phenotype [RCV000246603] Chr18:31545961 [GRCh38]
Chr18:29125924 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000524710]|Cardiomyopathy [RCV001186665]|Cardiovascular phenotype [RCV000241936]|not specified [RCV000439130] Chr18:31546652 [GRCh38]
Chr18:29126615 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001056576]|Cardiovascular phenotype [RCV000247972] Chr18:31546088 [GRCh38]
Chr18:29126051 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2792G>A (p.Arg931Lys) single nucleotide variant Cardiovascular phenotype [RCV000245754] Chr18:31546178 [GRCh38]
Chr18:29126141 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1071T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000400692] Chr18:31547814 [GRCh38]
Chr18:29127777 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*1866T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000362035] Chr18:31548609 [GRCh38]
Chr18:29128572 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.*419G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000284364]|Dilated Cardiomyopathy, Dominant [RCV000339505] Chr18:31547162 [GRCh38]
Chr18:29127125 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*677T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000322022] Chr18:31547420 [GRCh38]
Chr18:29127383 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000559253] Chr18:31546283 [GRCh38]
Chr18:29126246 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1399A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000271412] Chr18:31548142 [GRCh38]
Chr18:29128105 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2335-9T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000272699]|Cardiomyopathy [RCV000769513]|Dilated Cardiomyopathy, Dominant [RCV000329631]|not provided [RCV000907595] Chr18:31545712 [GRCh38]
Chr18:29125675 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*300G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000272912] Chr18:31547043 [GRCh38]
Chr18:29127006 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1339G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000329984] Chr18:31548082 [GRCh38]
Chr18:29128045 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.*737C>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000352598] Chr18:31547480 [GRCh38]
Chr18:29127443 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*211A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000297701] Chr18:31546954 [GRCh38]
Chr18:29126917 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*696G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000263517] Chr18:31547439 [GRCh38]
Chr18:29127402 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1136G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000398798] Chr18:31547879 [GRCh38]
Chr18:29127842 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*601_*602TG[7] microsatellite Arrhythmogenic right ventricular cardiomyopathy [RCV000365924] Chr18:31547342..31547343 [GRCh38]
Chr18:29127305..29127306 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.*599_*600del deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000401420]|Dilated Cardiomyopathy, Dominant [RCV000311207] Chr18:31547342..31547343 [GRCh38]
Chr18:29127305..29127306 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000366310]|Cardiomyopathy [RCV001187911] Chr18:31546498 [GRCh38]
Chr18:29126461 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*238T>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000276280] Chr18:31546981 [GRCh38]
Chr18:29126944 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*1473G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000378067]|Dilated Cardiomyopathy, Dominant [RCV000283569] Chr18:31548216 [GRCh38]
Chr18:29128179 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*705G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000318659] Chr18:31547448 [GRCh38]
Chr18:29127411 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*1714_*1715dup duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000368863] Chr18:31548455..31548456 [GRCh38]
Chr18:29128418..29128419 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000283532]|Cardiomyopathy [RCV001184783] Chr18:31546130 [GRCh38]
Chr18:29126093 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1036C>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000339434]|Dilated Cardiomyopathy, Dominant [RCV000284286] Chr18:31547779 [GRCh38]
Chr18:29127742 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1471T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000323361] Chr18:31548214 [GRCh38]
Chr18:29128177 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*990G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000383735] Chr18:31547733 [GRCh38]
Chr18:29127696 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*289A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000331377] Chr18:31547032 [GRCh38]
Chr18:29126995 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*425T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000401826] Chr18:31547168 [GRCh38]
Chr18:29127131 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*989C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000292958]|Dilated Cardiomyopathy, Dominant [RCV000329150] Chr18:31547732 [GRCh38]
Chr18:29127695 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000546510]|Cardiomyopathy [RCV000777772] Chr18:31545791 [GRCh38]
Chr18:29125754 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*889G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000360841] Chr18:31547632 [GRCh38]
Chr18:29127595 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000400517]|Dilated Cardiomyopathy, Dominant [RCV000340907] Chr18:31546188 [GRCh38]
Chr18:29126151 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*131C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000341028]|Dilated Cardiomyopathy, Dominant [RCV000390349] Chr18:31546874 [GRCh38]
Chr18:29126837 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*944del deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000277724]|Dilated Cardiomyopathy, Dominant [RCV000372151] Chr18:31547677 [GRCh38]
Chr18:29127640 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1674G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000394236] Chr18:31548417 [GRCh38]
Chr18:29128380 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*565A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000350983] Chr18:31547308 [GRCh38]
Chr18:29127271 [GRCh37]
Chr18:18q12.1
benign|likely benign
NM_001943.5(DSG2):c.*1263C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000369597] Chr18:31548006 [GRCh38]
Chr18:29127969 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*944dup duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000317543]|Dilated Cardiomyopathy, Dominant [RCV000262538] Chr18:31547676..31547677 [GRCh38]
Chr18:29127639..29127640 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.*1530T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000338579] Chr18:31548273 [GRCh38]
Chr18:29128236 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000304243]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000804791]|Cardiomyopathy [RCV001188866]|Dilated Cardiomyopathy, Dominant [RCV000265529] Chr18:31542680 [GRCh38]
Chr18:29122643 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1652T>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000335241] Chr18:31548395 [GRCh38]
Chr18:29128358 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*422C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000375412] Chr18:31547165 [GRCh38]
Chr18:29127128 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1844A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000323714] Chr18:31548587 [GRCh38]
Chr18:29128550 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) single nucleotide variant Cardiomyopathy [RCV001184490]|not provided [RCV000489811] Chr18:31546339 [GRCh38]
Chr18:29126302 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*932_*933insA insertion Arrhythmogenic right ventricular cardiomyopathy [RCV000302557]|Dilated Cardiomyopathy, Dominant [RCV000357255] Chr18:31547675..31547676 [GRCh38]
Chr18:29127638..29127639 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000590938]|Cardiomyopathy [RCV001188902] Chr18:31545857 [GRCh38]
Chr18:29125820 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*960dup duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000387026] Chr18:31547694..31547695 [GRCh38]
Chr18:29127657..29127658 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.*755G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000388559] Chr18:31547498 [GRCh38]
Chr18:29127461 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*874C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000399613]|Dilated Cardiomyopathy, Dominant [RCV000306127] Chr18:31547617 [GRCh38]
Chr18:29127580 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*788G>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000349273] Chr18:31547531 [GRCh38]
Chr18:29127494 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*608G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000306976] Chr18:31547351 [GRCh38]
Chr18:29127314 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*25del deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000285148]|Dilated Cardiomyopathy, Dominant [RCV000342497] Chr18:31546766 [GRCh38]
Chr18:29126729 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*96C>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000395672] Chr18:31546839 [GRCh38]
Chr18:29126802 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*2034C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000374657]|Dilated Cardiomyopathy, Dominant [RCV000322475] Chr18:31548777 [GRCh38]
Chr18:29128740 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000393794]|Cardiomyopathy [RCV001181528]|not provided [RCV000521532] Chr18:31546430 [GRCh38]
Chr18:29126393 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*859G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000344766] Chr18:31547602 [GRCh38]
Chr18:29127565 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*351C>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000382197]|Dilated Cardiomyopathy, Dominant [RCV000287729] Chr18:31547094 [GRCh38]
Chr18:29127057 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*392A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000378856] Chr18:31547135 [GRCh38]
Chr18:29127098 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1786G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000365467]|Dilated Cardiomyopathy, Dominant [RCV000310806] Chr18:31548529 [GRCh38]
Chr18:29128492 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000700688]|Cardiomyopathy [RCV001191878]|not provided [RCV000522812] Chr18:31542592 [GRCh38]
Chr18:29122555 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2019G>C (p.Leu673=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000401595] Chr18:31542537 [GRCh38]
Chr18:29122500 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1450G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000326431]|Dilated Cardiomyopathy, Dominant [RCV000381438] Chr18:31548193 [GRCh38]
Chr18:29128156 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*159G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000301302] Chr18:31546902 [GRCh38]
Chr18:29126865 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1012C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000396854]|Dilated Cardiomyopathy, Dominant [RCV000342839] Chr18:31547755 [GRCh38]
Chr18:29127718 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001222634]|not provided [RCV000520319] Chr18:31542760 [GRCh38]
Chr18:29122723 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala) single nucleotide variant not provided [RCV000520857] Chr18:31546100 [GRCh38]
Chr18:29126063 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001201605]|Cardiomyopathy [RCV001185321]|not provided [RCV000589319] Chr18:31545896 [GRCh38]
Chr18:29125859 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2085G>A (p.Thr695=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000540581]|Cardiomyopathy [RCV001179325]|Cardiovascular phenotype [RCV000621592]|not specified [RCV000611345] Chr18:31542603 [GRCh38]
Chr18:29122566 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=) single nucleotide variant Cardiomyopathy [RCV001188437]|Cardiovascular phenotype [RCV000617667]|not provided [RCV000869939]|not specified [RCV000427700] Chr18:31546611 [GRCh38]
Chr18:29126574 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys) single nucleotide variant not specified [RCV000431668] Chr18:31546442 [GRCh38]
Chr18:29126405 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000864990]|Cardiomyopathy [RCV001184547]|not specified [RCV000439043] Chr18:31546677 [GRCh38]
Chr18:29126640 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2628T>C (p.Val876=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000914677]|Cardiomyopathy [RCV001191141]|Cardiovascular phenotype [RCV000620180]|not specified [RCV000419603] Chr18:31546014 [GRCh38]
Chr18:29125977 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2334+9G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000458950]|not specified [RCV000422279] Chr18:31542861 [GRCh38]
Chr18:29122824 [GRCh37]
Chr18:18q12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642320]|Cardiomyopathy [RCV000769518]|not provided [RCV000431080] Chr18:31546425 [GRCh38]
Chr18:29126388 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic|uncertain significance
NM_001943.5(DSG2):c.2751G>A (p.Ala917=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000529835]|Cardiomyopathy [RCV001188956]|not specified [RCV000419934] Chr18:31546137 [GRCh38]
Chr18:29126100 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2485T>A (p.Leu829Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000462663] Chr18:31545871 [GRCh38]
Chr18:29125834 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001241693]|not provided [RCV000757181] Chr18:31546619 [GRCh38]
Chr18:29126582 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000537280]|Cardiomyopathy [RCV001177921]|not provided [RCV000479999] Chr18:31546739 [GRCh38]
Chr18:29126702 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys) single nucleotide variant Cardiomyopathy [RCV000772021]|not provided [RCV000484089] Chr18:31542683 [GRCh38]
Chr18:29122646 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2004G>A (p.Val668=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000463806]|Cardiomyopathy [RCV000772077]|Cardiovascular phenotype [RCV000617363] Chr18:31542522 [GRCh38]
Chr18:29122485 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000460621]|Cardiomyopathy [RCV001180045]|Dilated cardiomyopathy [RCV000852475] Chr18:31542846 [GRCh38]
Chr18:29122809 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000529624]|Cardiomyopathy [RCV001176559]|Primary dilated cardiomyopathy [RCV001197615]|not provided [RCV000481316] Chr18:31542793 [GRCh38]
Chr18:29122756 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2358del (p.Asp787fs) deletion not provided [RCV000485089] Chr18:31545743 [GRCh38]
Chr18:29125706 [GRCh37]
Chr18:18q12.1
likely pathogenic
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro) single nucleotide variant Cardiomyopathy [RCV000772022]|not provided [RCV000485957] Chr18:31545979 [GRCh38]
Chr18:29125942 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2955del (p.Val986fs) deletion Dilated cardiomyopathy 1BB [RCV000496079]|not provided [RCV000485291] Chr18:31546340 [GRCh38]
Chr18:29126303 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) single nucleotide variant Cardiomyopathy [RCV001170379]|not provided [RCV000486822] Chr18:31545735 [GRCh38]
Chr18:29125698 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) deletion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001212540]|not provided [RCV000482922] Chr18:31546527..31546530 [GRCh38]
Chr18:29126490..29126493 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.4(DSG2):c.3055_3058delAGAG (p.Glu1020Alafs) deletion Dilated cardiomyopathy 1BB [RCV000496000] Chr18:31546441..31546444 [GRCh38]
Chr18:29126404..29126407 [GRCh37]
Chr18:18q12.1
likely pathogenic
NM_001943.4(DSG2):c.2954delT (p.Val986Trpfs) deletion Dilated cardiomyopathy 1BB [RCV000496079] Chr18:31546340 [GRCh38]
Chr18:29126303 [GRCh37]
Chr18:18q12.1
pathogenic
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642311] Chr18:31546726 [GRCh38]
Chr18:29126689 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) single nucleotide variant Cardiomyopathy [RCV001189678]|not specified [RCV000613236] Chr18:31546581 [GRCh38]
Chr18:29126544 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000865997]|Cardiomyopathy [RCV000772695]|not specified [RCV000624177] Chr18:31546345 [GRCh38]
Chr18:29126308 [GRCh37]
Chr18:18q12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001943.5(DSG2):c.2583A>G (p.Thr861=) single nucleotide variant Cardiomyopathy [RCV001181869]|not specified [RCV000611045] Chr18:31545969 [GRCh38]
Chr18:29125932 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001088637]|Cardiomyopathy [RCV001187318]|not provided [RCV000862602]|not specified [RCV000608537] Chr18:31545726 [GRCh38]
Chr18:29125689 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000535442] Chr18:31546360 [GRCh38]
Chr18:29126323 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3210G>A (p.Thr1070=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000536789]|Cardiomyopathy [RCV000772098] Chr18:31546596 [GRCh38]
Chr18:29126559 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2241C>T (p.Thr747=) single nucleotide variant Cardiomyopathy [RCV001181552]|not specified [RCV000604423] Chr18:31542759 [GRCh38]
Chr18:29122722 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000793087]|Cardiomyopathy [RCV001191774]|Cardiovascular phenotype [RCV000621898] Chr18:31546000 [GRCh38]
Chr18:29125963 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2428T>A (p.Ser810Thr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642323] Chr18:31545814 [GRCh38]
Chr18:29125777 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2913T>G (p.Ala971=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642330]|Cardiomyopathy [RCV001177866] Chr18:31546299 [GRCh38]
Chr18:29126262 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3336T>G (p.Thr1112=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642331] Chr18:31546722 [GRCh38]
Chr18:29126685 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2645A>C (p.Tyr882Ser) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000642317] Chr18:31546031 [GRCh38]
Chr18:29125994 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000698840]|Cardiomyopathy [RCV001187930] Chr18:31542524 [GRCh38]
Chr18:29122487 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000687060]|Cardiomyopathy [RCV001186267] Chr18:31546373 [GRCh38]
Chr18:29126336 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2257del (p.Ala753fs) deletion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000706687] Chr18:31542772 [GRCh38]
Chr18:29122735 [GRCh37]
Chr18:18q12.1
pathogenic
NM_001943.5(DSG2):c.3281G>A (p.Gly1094Asp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000704588] Chr18:31546667 [GRCh38]
Chr18:29126630 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs) duplication Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000687935] Chr18:31546144..31546145 [GRCh38]
Chr18:29126107..29126108 [GRCh37]
Chr18:18q12.1
pathogenic
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000691323]|Cardiomyopathy [RCV001186672] Chr18:31542597 [GRCh38]
Chr18:29122560 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2426C>T (p.Ala809Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000693884] Chr18:31545812 [GRCh38]
Chr18:29125775 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) deletion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000699399]|Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10 [RCV001258112]|Cardiomyopathy [RCV001192101] Chr18:31546202 [GRCh38]
Chr18:29126165 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic|uncertain significance
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000692519] Chr18:31545955 [GRCh38]
Chr18:29125918 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) deletion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000702405] Chr18:31545914 [GRCh38]
Chr18:29125877 [GRCh37]
Chr18:18q12.1
pathogenic|likely pathogenic
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000705065] Chr18:31545892 [GRCh38]
Chr18:29125855 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2010A>G (p.Pro670=) single nucleotide variant not provided [RCV000939739] Chr18:31542528 [GRCh38]
Chr18:29122491 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2720T>G (p.Val907Gly) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001044453] Chr18:31546106 [GRCh38]
Chr18:29126069 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2825C>T (p.Thr942Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001067067] Chr18:31546211 [GRCh38]
Chr18:29126174 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3171G>A (p.Leu1057=) single nucleotide variant not provided [RCV000865028] Chr18:31546557 [GRCh38]
Chr18:29126520 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2551del (p.Ile851fs) deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000845483] Chr18:31545935 [GRCh38]
Chr18:29125898 [GRCh37]
Chr18:18q12.1
likely pathogenic
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) single nucleotide variant Cardiomyopathy [RCV001170378]|not provided [RCV000870771] Chr18:31545725 [GRCh38]
Chr18:29125688 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2659A>G (p.Ser887Gly) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000845373] Chr18:31546045 [GRCh38]
Chr18:29126008 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr) single nucleotide variant Familial dilated cardiomyopathy [RCV000845499] Chr18:31545971 [GRCh38]
Chr18:29125934 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2538T>C (p.Asp846=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000882963] Chr18:31545924 [GRCh38]
Chr18:29125887 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3205A>G (p.Met1069Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001036903]|Cardiomyopathy [RCV001192220] Chr18:31546591 [GRCh38]
Chr18:29126554 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001042489]|Cardiomyopathy [RCV001188803] Chr18:31545727 [GRCh38]
Chr18:29125690 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2900T>G (p.Val967Gly) single nucleotide variant Cardiomyopathy [RCV000774052] Chr18:31546286 [GRCh38]
Chr18:29126249 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp) single nucleotide variant Cardiomyopathy [RCV000774283] Chr18:31546113 [GRCh38]
Chr18:29126076 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2742T>C (p.Ser914=) single nucleotide variant Cardiomyopathy [RCV000774284] Chr18:31546128 [GRCh38]
Chr18:29126091 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3085G>A (p.Val1029Met) single nucleotide variant Cardiomyopathy [RCV000774313] Chr18:31546471 [GRCh38]
Chr18:29126434 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2898G>A (p.Arg966=) single nucleotide variant Cardiomyopathy [RCV000776436] Chr18:31546284 [GRCh38]
Chr18:29126247 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2970A>C (p.Arg990Ser) single nucleotide variant Cardiomyopathy [RCV000773879] Chr18:31546356 [GRCh38]
Chr18:29126319 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2264_2269dup (p.Arg755_Asp756dup) duplication Cardiomyopathy [RCV000774377] Chr18:31542779..31542780 [GRCh38]
Chr18:29122742..29122743 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2696C>T (p.Ala899Val) single nucleotide variant Cardiomyopathy [RCV000774469] Chr18:31546082 [GRCh38]
Chr18:29126045 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2991T>A (p.Gly997=) single nucleotide variant Cardiomyopathy [RCV000774438] Chr18:31546377 [GRCh38]
Chr18:29126340 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2360A>C (p.Asp787Ala) single nucleotide variant Cardiomyopathy [RCV000774450] Chr18:31545746 [GRCh38]
Chr18:29125709 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2754A>G (p.Gln918=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000937748] Chr18:31546140 [GRCh38]
Chr18:29126103 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2853G>A (p.Val951=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000860995]|Cardiomyopathy [RCV001181797] Chr18:31546239 [GRCh38]
Chr18:29126202 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2766A>C (p.Thr922=) single nucleotide variant not provided [RCV000979977] Chr18:31546152 [GRCh38]
Chr18:29126115 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp) single nucleotide variant Cardiomyopathy [RCV000769514] Chr18:31545744 [GRCh38]
Chr18:29125707 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2741C>G (p.Ser914Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000818973] Chr18:31546127 [GRCh38]
Chr18:29126090 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del) deletion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000803237] Chr18:31542646..31542654 [GRCh38]
Chr18:29122609..29122617 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000816464]|Cardiomyopathy [RCV001187155] Chr18:31542606 [GRCh38]
Chr18:29122569 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000807670] Chr18:31545975 [GRCh38]
Chr18:29125938 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2797G>A (p.Val933Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000811100] Chr18:31546183 [GRCh38]
Chr18:29126146 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3147A>G (p.Arg1049=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000942944] Chr18:31546533 [GRCh38]
Chr18:29126496 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3256C>T (p.Pro1086Ser) single nucleotide variant Cardiomyopathy [RCV001180677] Chr18:31546642 [GRCh38]
Chr18:29126605 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs) insertion not provided [RCV001090343] Chr18:31546422..31546423 [GRCh38]
Chr18:29126385..29126386 [GRCh37]
Chr18:18q12.1
likely pathogenic
NM_001943.5(DSG2):c.2235G>A (p.Thr745=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000870351]|Cardiomyopathy [RCV001187618] Chr18:31542753 [GRCh38]
Chr18:29122716 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001214107] Chr18:31545783 [GRCh38]
Chr18:29125746 [GRCh37]
Chr18:18q12.1
pathogenic
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met) inversion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001248663] Chr18:31545890..31545891 [GRCh38]
Chr18:29125853..29125854 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3061_3062dup (p.Ser1021fs) microsatellite Cardiomyopathy [RCV001182153] Chr18:31546440..31546441 [GRCh38]
Chr18:29126403..29126404 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3075C>T (p.Pro1025=) single nucleotide variant Cardiomyopathy [RCV001176196] Chr18:31546461 [GRCh38]
Chr18:29126424 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3233G>A (p.Gly1078Glu) single nucleotide variant Cardiomyopathy [RCV001178057] Chr18:31546619 [GRCh38]
Chr18:29126582 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2443A>C (p.Ser815Arg) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001222436] Chr18:31545829 [GRCh38]
Chr18:29125792 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001238063] Chr18:31542661 [GRCh38]
Chr18:29122624 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2068A>G (p.Met690Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001206776] Chr18:31542586 [GRCh38]
Chr18:29122549 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2595dup (p.Ala866fs) duplication not provided [RCV000996667] Chr18:31545980..31545981 [GRCh38]
Chr18:29125943..29125944 [GRCh37]
Chr18:18q12.1
likely pathogenic
NM_001943.5(DSG2):c.2716A>G (p.Ile906Val) single nucleotide variant not provided [RCV000996668] Chr18:31546102 [GRCh38]
Chr18:29126065 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001048159]|not provided [RCV000996669] Chr18:31546186 [GRCh38]
Chr18:29126149 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3318A>C (p.Arg1106Ser) single nucleotide variant Cardiomyopathy [RCV001186192]|not provided [RCV000996671] Chr18:31546704 [GRCh38]
Chr18:29126667 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2558A>G (p.Gln853Arg) single nucleotide variant Cardiomyopathy [RCV001182687] Chr18:31545944 [GRCh38]
Chr18:29125907 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*739G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001127796] Chr18:31547482 [GRCh38]
Chr18:29127445 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2224A>G (p.Thr742Ala) single nucleotide variant Cardiomyopathy [RCV001176408] Chr18:31542742 [GRCh38]
Chr18:29122705 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) single nucleotide variant Cardiomyopathy [RCV001176758]|not specified [RCV001193022] Chr18:31546690 [GRCh38]
Chr18:29126653 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2467G>C (p.Asp823His) single nucleotide variant Cardiomyopathy [RCV001176936] Chr18:31545853 [GRCh38]
Chr18:29125816 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*504A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001125695] Chr18:31547247 [GRCh38]
Chr18:29127210 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.*666G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001125696] Chr18:31547409 [GRCh38]
Chr18:29127372 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3309T>C (p.Ser1103=) single nucleotide variant not provided [RCV000931118] Chr18:31546695 [GRCh38]
Chr18:29126658 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2421G>T (p.Leu807=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000869389]|Cardiomyopathy [RCV001179737] Chr18:31545807 [GRCh38]
Chr18:29125770 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2713G>A (p.Glu905Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001235407] Chr18:31546099 [GRCh38]
Chr18:29126062 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2638A>C (p.Asn880His) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001244761]|Cardiomyopathy [RCV001179888] Chr18:31546024 [GRCh38]
Chr18:29125987 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) single nucleotide variant Cardiomyopathy [RCV001187138] Chr18:31546028 [GRCh38]
Chr18:29125991 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met) single nucleotide variant Cardiomyopathy [RCV001192225] Chr18:31546362 [GRCh38]
Chr18:29126325 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2070G>A (p.Met690Ile) single nucleotide variant Cardiomyopathy [RCV001187233] Chr18:31542588 [GRCh38]
Chr18:29122551 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2335-7A>C single nucleotide variant Cardiomyopathy [RCV001176205] Chr18:31545714 [GRCh38]
Chr18:29125677 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2214T>G (p.Ala738=) single nucleotide variant Cardiomyopathy [RCV001187764] Chr18:31542732 [GRCh38]
Chr18:29122695 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2938G>A (p.Ala980Thr) single nucleotide variant Cardiomyopathy [RCV001187983] Chr18:31546324 [GRCh38]
Chr18:29126287 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2996C>T (p.Ser999Leu) single nucleotide variant Cardiomyopathy [RCV001188068] Chr18:31546382 [GRCh38]
Chr18:29126345 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2830T>C (p.Ser944Pro) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001035951] Chr18:31546216 [GRCh38]
Chr18:29126179 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2876A>G (p.Gln959Arg) single nucleotide variant Cardiomyopathy [RCV001188228] Chr18:31546262 [GRCh38]
Chr18:29126225 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3204T>G (p.Ser1068=) single nucleotide variant Cardiomyopathy [RCV001188303] Chr18:31546590 [GRCh38]
Chr18:29126553 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2366A>G (p.Asn789Ser) single nucleotide variant Cardiomyopathy [RCV001188836] Chr18:31545752 [GRCh38]
Chr18:29125715 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2065G>A (p.Gly689Ser) single nucleotide variant not provided [RCV001092838] Chr18:31542583 [GRCh38]
Chr18:29122546 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2442C>T (p.Cys814=) single nucleotide variant Cardiomyopathy [RCV001189009] Chr18:31545828 [GRCh38]
Chr18:29125791 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2140A>G (p.Met714Val) single nucleotide variant Cardiomyopathy [RCV001189101] Chr18:31542658 [GRCh38]
Chr18:29122621 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3319_3321delinsATC (p.Val1107Ile) indel Cardiomyopathy [RCV001176440] Chr18:31546705..31546707 [GRCh38]
Chr18:29126668..29126670 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001227709] Chr18:31545763 [GRCh38]
Chr18:29125726 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2059G>T (p.Val687Leu) single nucleotide variant Cardiomyopathy [RCV001177530] Chr18:31542577 [GRCh38]
Chr18:29122540 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu) single nucleotide variant Cardiomyopathy [RCV001189555] Chr18:31542733 [GRCh38]
Chr18:29122696 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val) single nucleotide variant Cardiomyopathy [RCV001190097] Chr18:31542733 [GRCh38]
Chr18:29122696 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2982T>C (p.Pro994=) single nucleotide variant Cardiomyopathy [RCV001190368] Chr18:31546368 [GRCh38]
Chr18:29126331 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2043A>T (p.Leu681=) single nucleotide variant Cardiomyopathy [RCV001190467] Chr18:31542561 [GRCh38]
Chr18:29122524 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2857del (p.Leu953fs) deletion Cardiomyopathy [RCV001183356] Chr18:31546242 [GRCh38]
Chr18:29126205 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr) single nucleotide variant Cardiomyopathy [RCV001176845] Chr18:31542760 [GRCh38]
Chr18:29122723 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2335-8C>G single nucleotide variant Cardiomyopathy [RCV001191600] Chr18:31545713 [GRCh38]
Chr18:29125676 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3039C>T (p.Tyr1013=) single nucleotide variant Cardiomyopathy [RCV001177389] Chr18:31546425 [GRCh38]
Chr18:29126388 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2594C>T (p.Thr865Ile) single nucleotide variant Cardiomyopathy [RCV001184873] Chr18:31545980 [GRCh38]
Chr18:29125943 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001206799] Chr18:31546399 [GRCh38]
Chr18:29126362 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2169C>T (p.Ser723=) single nucleotide variant Cardiomyopathy [RCV001183096] Chr18:31542687 [GRCh38]
Chr18:29122650 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2619A>G (p.Gln873=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001244633]|Cardiomyopathy [RCV001180484] Chr18:31546005 [GRCh38]
Chr18:29125968 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*1803A>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001124789] Chr18:31548546 [GRCh38]
Chr18:29128509 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3165dup (p.Thr1056fs) duplication Cardiomyopathy [RCV001177731] Chr18:31546549..31546550 [GRCh38]
Chr18:29126512..29126513 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3210G>T (p.Thr1070=) single nucleotide variant Cardiomyopathy [RCV001188302] Chr18:31546596 [GRCh38]
Chr18:29126559 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2863C>T (p.Pro955Ser) single nucleotide variant Cardiomyopathy [RCV001188538] Chr18:31546249 [GRCh38]
Chr18:29126212 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1831T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001124790] Chr18:31548574 [GRCh38]
Chr18:29128537 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001070844]|Cardiomyopathy [RCV001184354]|not provided [RCV001092839] Chr18:31546096 [GRCh38]
Chr18:29126059 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001206902]|Cardiomyopathy [RCV001185531] Chr18:31546610 [GRCh38]
Chr18:29126573 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.3226G>T (p.Val1076Leu) single nucleotide variant Cardiomyopathy [RCV001178279] Chr18:31546612 [GRCh38]
Chr18:29126575 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2220G>C (p.Met740Ile) single nucleotide variant Cardiomyopathy [RCV001188710] Chr18:31542738 [GRCh38]
Chr18:29122701 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2796T>G (p.Asn932Lys) single nucleotide variant Cardiomyopathy [RCV001188767] Chr18:31546182 [GRCh38]
Chr18:29126145 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2509G>A (p.Ala837Thr) single nucleotide variant Cardiomyopathy [RCV001188922] Chr18:31545895 [GRCh38]
Chr18:29125858 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3181T>A (p.Tyr1061Asn) single nucleotide variant Cardiomyopathy [RCV001185941] Chr18:31546567 [GRCh38]
Chr18:29126530 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001206928]|Cardiomyopathy [RCV001178763] Chr18:31542787 [GRCh38]
Chr18:29122750 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2418G>A (p.Ser806=) single nucleotide variant Cardiomyopathy [RCV001177619] Chr18:31545804 [GRCh38]
Chr18:29125767 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2472C>T (p.Arg824=) single nucleotide variant Cardiomyopathy [RCV001189792] Chr18:31545858 [GRCh38]
Chr18:29125821 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.*1982A>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001125782] Chr18:31548725 [GRCh38]
Chr18:29128688 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2620del (p.Thr874fs) deletion Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001036046] Chr18:31546004 [GRCh38]
Chr18:29125967 [GRCh37]
Chr18:18q12.1
pathogenic
NM_001943.5(DSG2):c.3306A>G (p.Thr1102=) single nucleotide variant Cardiomyopathy [RCV001186196] Chr18:31546692 [GRCh38]
Chr18:29126655 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2203G>A (p.Ala735Thr) single nucleotide variant Cardiomyopathy [RCV001189829] Chr18:31542721 [GRCh38]
Chr18:29122684 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3174A>G (p.Gln1058=) single nucleotide variant Cardiomyopathy [RCV001178942] Chr18:31546560 [GRCh38]
Chr18:29126523 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2115C>G (p.Val705=) single nucleotide variant Cardiomyopathy [RCV001178977] Chr18:31542633 [GRCh38]
Chr18:29122596 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2501A>G (p.Lys834Arg) single nucleotide variant Cardiomyopathy [RCV001190350] Chr18:31545887 [GRCh38]
Chr18:29125850 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3178A>G (p.Ser1060Gly) single nucleotide variant Cardiomyopathy [RCV001190738] Chr18:31546564 [GRCh38]
Chr18:29126527 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp) single nucleotide variant Cardiomyopathy [RCV001176016] Chr18:31546334 [GRCh38]
Chr18:29126297 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2287G>A (p.Ala763Thr) single nucleotide variant Cardiomyopathy [RCV001191206] Chr18:31542805 [GRCh38]
Chr18:29122768 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2694T>A (p.Asn898Lys) single nucleotide variant Cardiomyopathy [RCV001179268] Chr18:31546080 [GRCh38]
Chr18:29126043 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2908C>T (p.Pro970Ser) single nucleotide variant Cardiomyopathy [RCV001186582] Chr18:31546294 [GRCh38]
Chr18:29126257 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2721C>T (p.Val907=) single nucleotide variant Cardiomyopathy [RCV001186613] Chr18:31546107 [GRCh38]
Chr18:29126070 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2397T>C (p.Tyr799=) single nucleotide variant Cardiomyopathy [RCV001183654] Chr18:31545783 [GRCh38]
Chr18:29125746 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2179G>A (p.Gly727Ser) single nucleotide variant Cardiomyopathy [RCV001183679] Chr18:31542697 [GRCh38]
Chr18:29122660 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3341A>C (p.Gln1114Pro) single nucleotide variant Cardiomyopathy [RCV001191225] Chr18:31546727 [GRCh38]
Chr18:29126690 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2335-12_2335-8dup duplication Cardiomyopathy [RCV001191423] Chr18:31545708..31545709 [GRCh38]
Chr18:29125671..29125672 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.*1264G>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001122021] Chr18:31548007 [GRCh38]
Chr18:29127970 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2676A>T (p.Lys892Asn) single nucleotide variant Cardiomyopathy [RCV001181705] Chr18:31546062 [GRCh38]
Chr18:29126025 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr) single nucleotide variant Cardiomyopathy [RCV001179462] Chr18:31542629 [GRCh38]
Chr18:29122592 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp) single nucleotide variant Cardiomyopathy [RCV001179491] Chr18:31546086 [GRCh38]
Chr18:29126049 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2773C>T (p.Pro925Ser) single nucleotide variant Cardiomyopathy [RCV001186792] Chr18:31546159 [GRCh38]
Chr18:29126122 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3298A>G (p.Ile1100Val) single nucleotide variant Cardiomyopathy [RCV001180135] Chr18:31546684 [GRCh38]
Chr18:29126647 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2491C>T (p.Leu831Phe) single nucleotide variant Cardiomyopathy [RCV001192136] Chr18:31545877 [GRCh38]
Chr18:29125840 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala) single nucleotide variant Cardiomyopathy [RCV001187015] Chr18:31542794 [GRCh38]
Chr18:29122757 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2712G>A (p.Gln904=) single nucleotide variant Cardiomyopathy [RCV001187040] Chr18:31546098 [GRCh38]
Chr18:29126061 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser) single nucleotide variant Cardiomyopathy [RCV001179820] Chr18:31542553 [GRCh38]
Chr18:29122516 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*1385C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001122022] Chr18:31548128 [GRCh38]
Chr18:29128091 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2640T>A (p.Asn880Lys) single nucleotide variant Cardiomyopathy [RCV001175800] Chr18:31546026 [GRCh38]
Chr18:29125989 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2929C>T (p.Gln977Ter) single nucleotide variant Cardiomyopathy [RCV001175986] Chr18:31546315 [GRCh38]
Chr18:29126278 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2984A>T (p.His995Leu) single nucleotide variant Cardiomyopathy [RCV001187191] Chr18:31546370 [GRCh38]
Chr18:29126333 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2340G>A (p.Ala780=) single nucleotide variant Cardiomyopathy [RCV001180181] Chr18:31545726 [GRCh38]
Chr18:29125689 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2373A>G (p.Thr791=) single nucleotide variant Cardiomyopathy [RCV001187503] Chr18:31545759 [GRCh38]
Chr18:29125722 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.3113T>C (p.Ile1038Thr) single nucleotide variant Cardiomyopathy [RCV001187588] Chr18:31546499 [GRCh38]
Chr18:29126462 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2826A>G (p.Thr942=) single nucleotide variant Cardiomyopathy [RCV001181005] Chr18:31546212 [GRCh38]
Chr18:29126175 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001060263]|Cardiomyopathy [RCV001186747] Chr18:31546219 [GRCh38]
Chr18:29126182 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.2215A>T (p.Ile739Phe) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001042106] Chr18:31542733 [GRCh38]
Chr18:29122696 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2797G>T (p.Val933Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001219995] Chr18:31546183 [GRCh38]
Chr18:29126146 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001036797] Chr18:31546666 [GRCh38]
Chr18:29126629 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2174T>C (p.Leu725Pro) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001215727] Chr18:31542692 [GRCh38]
Chr18:29122655 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2178T>C (p.Ser726=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001124612]|Cardiomyopathy [RCV001189210] Chr18:31542696 [GRCh38]
Chr18:29122659 [GRCh37]
Chr18:18q12.1
likely benign|uncertain significance
NM_001943.5(DSG2):c.*1596T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001124788] Chr18:31548339 [GRCh38]
Chr18:29128302 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs) insertion Cardiomyopathy [RCV001180681] Chr18:31545729..31545730 [GRCh38]
Chr18:29125692..29125693 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2271G>A (p.Met757Ile) single nucleotide variant Cardiomyopathy [RCV001181693] Chr18:31542789 [GRCh38]
Chr18:29122752 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2126A>G (p.His709Arg) single nucleotide variant Cardiomyopathy [RCV001181742] Chr18:31542644 [GRCh38]
Chr18:29122607 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001064170] Chr18:31545806 [GRCh38]
Chr18:29125769 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2563C>A (p.Gln855Lys) single nucleotide variant Cardiomyopathy [RCV001170380] Chr18:31545949 [GRCh38]
Chr18:29125912 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.*806C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001127797] Chr18:31547549 [GRCh38]
Chr18:29127512 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.*847T>C single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001127798] Chr18:31547590 [GRCh38]
Chr18:29127553 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp) single nucleotide variant Cardiomyopathy [RCV001177201] Chr18:31546067 [GRCh38]
Chr18:29126030 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2861G>A (p.Gly954Asp) single nucleotide variant Cardiomyopathy [RCV001177542] Chr18:31546247 [GRCh38]
Chr18:29126210 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001037153] Chr18:31545833 [GRCh38]
Chr18:29125796 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2304C>T (p.Asn768=) single nucleotide variant Cardiomyopathy [RCV001178069] Chr18:31542822 [GRCh38]
Chr18:29122785 [GRCh37]
Chr18:18q12.1
likely benign
NM_001943.5(DSG2):c.2488G>T (p.Gly830Ter) single nucleotide variant Cardiomyopathy [RCV001185432] Chr18:31545874 [GRCh38]
Chr18:29125837 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2836A>G (p.Met946Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV001196002] Chr18:31546222 [GRCh38]
Chr18:29126185 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.3308C>G (p.Ser1103Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001063132] Chr18:31546694 [GRCh38]
Chr18:29126657 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2643C>A (p.Thr881=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001125612] Chr18:31546029 [GRCh38]
Chr18:29125992 [GRCh37]
Chr18:18q12.1
uncertain significance
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) single nucleotide variant Dilated cardiomyopathy 1A [RCV001256689] Chr18:31546154 [GRCh38]
Chr18:29126117 [GRCh37]
Chr18:18q12.1
uncertain significance

Additional Information

Database Acc Id Source(s)
COSMIC DSG2-AS1 COSMIC
Ensembl Genes ENSG00000264859 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000583706 ENTREZGENE
GTEx ENSG00000264859 GTEx
HGNC ID HGNC:51311 ENTREZGENE
Human Proteome Map DSG2-AS1 Human Proteome Map
NCBI Gene DSG2-AS1 ENTREZGENE
RNAcentral URS000075E03B RNACentral
UniGene Hs.562766 ENTREZGENE