MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:4214
Name:Epidermolysis bullosa, lethal acantholytic
Definition:
Alternative IDs:OMIM:609638
ParentIDs:MESH:D004820
TreeNumbers:C16.131.831.493/C535493 |C16.320.850.275/C535493 |C17.800.804.493/C535493 |C17.800.827.275/C535493 |C17.800.865.410/C535493
Synonyms:EBLA |LAEB |LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: C535493
MeSH: C535493
OMIM: 609638;
MSeqDR LSDB:  
Genes: ADGRV1; DSP;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001597Abnormality of the nail
3 HP:0100792Acantholysis
4 HP:0001596Alopecia
5 HP:0002289Alopecia universalis
6 HP:0001798Anonychia
7 HP:0001057Aplasia cutis congenita
8 HP:0001640CardiomegalyHP:0040283
9 HP:0004057Mitten deformity
10 HP:0000695Natal tooth
11 HP:0003811Neonatal death
12 HP:0001741Phimosis
13 HP:0001852Sandal gap
14 HP:0200041Skin erosion
15 HP:0009884Tapered distal phalanges of finger
16 HP:0008094Widely spaced toes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004415.3(DSP):c.-281C>T1832DSPLikely benignrs547069600RCV000282042|RCV000292531|RCV000349784|RCV000391277; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:24675418687541868CT6:g.7541868C>TClinGen:CA10654703C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.3(DSP):c.-260A>G1832DSPUncertain significancers886061738RCV000267663|RCV000284763|RCV000322798|RCV000377463; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675418897541889AG6:g.7541889A>GClinGen:CA10627557
NM_004415.4(DSP):c.-228C>A1832DSPUncertain significancers886061739RCV000278809|RCV000318739|RCV000336125|RCV000375621; NMONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675419217541921CA6:g.7541921C>AClinGen:CA10622688
NM_004415.4(DSP):c.-190G>T1832DSPUncertain significancers886061740RCV000296350|RCV000348911|RCV000395573|RCV000403802; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:15866675419597541959GT6:g.7541959G>TClinGen:CA10627585
NM_004415.4(DSP):c.-179T>C1832DSPUncertain significancers886061741RCV000307987|RCV000309060|RCV000366106|RCV000399936; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675419707541970TC6:g.7541970T>CClinGen:CA10627586
NM_004415.4(DSP):c.-157G>A1832DSPUncertain significancers886061742RCV000320762|RCV000358755|RCV000360336; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675419927541992GA6:g.7541992G>AClinGen:CA10624618
NM_004415.4(DSP):c.-104G>A1832DSPUncertain significance-1RCV001160713|RCV001160714|RCV001160715; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675420457542045GA6:g.7542045G>A-
NM_004415.4(DSP):c.-76C>T1832DSPUncertain significance-1RCV001160716|RCV001160717|RCV001162337; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675420737542073CT6:g.7542073C>T-
NM_004415.4(DSP):c.-70C>T1832DSPUncertain significance-1RCV001162338|RCV001162339|RCV001162340; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675420797542079CT6:g.7542079C>T-
NM_004415.4(DSP):c.-36C>A1832DSPUncertain significancers886061743RCV000261550|RCV000279362|RCV000319184|RCV000371500; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675421137542113CA6:g.7542113C>AClinGen:CA10624619C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1dup (p.Met1fs)1832DSPConflicting interpretations of pathogenicityrs17133512RCV000037982|RCV000292424|RCV000346732|RCV000389020|RCV000622220|RCV000771055|RCV000845351|RCV001253578; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN230736|Human Phenotype Ontology:HP:00675421497542149CCA6:g.7542148_7542149insAClinGen:CA282478
NM_004415.4(DSP):c.9C>T (p.Cys3=)1832DSPConflicting interpretations of pathogenicityrs769032973RCV000288181|RCV000345539|RCV000406100|RCV000620987; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736675421577542157CT6:g.7542157C>TClinGen:CA053491C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)1832DSPConflicting interpretations of pathogenicityrs368802003RCV000037991|RCV000233869|RCV000243936|RCV000300203|RCV000305671|RCV000358231|RCV000776150; NMedGen:CN169374|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675421607542160CG6:g.7542160C>GClinGen:CA004879
NM_004415.4(DSP):c.36C>T (p.Asn12=)1832DSPUncertain significancers886061744RCV000260128|RCV000357454|RCV000370214; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675421847542184CT6:g.7542184C>TClinGen:CA10624622C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.105G>A (p.Gly35=)1832DSPBenign/Likely benignrs77445784RCV000029675|RCV000037983|RCV000227163|RCV000271030|RCV000330639|RCV000387490|RCV001084479; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO675422537542253GA6:g.7542253G>AClinGen:CA004756C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.126T>C (p.Tyr42=)1832DSPBenignrs36087964RCV000037988|RCV000288715|RCV000341384|RCV000379727|RCV000618314|RCV000771064; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MON675422747542274TC6:g.7542274T>CClinGen:CA004854
NM_004415.4(DSP):c.264C>T (p.Ile88=)1832DSPConflicting interpretations of pathogenicityrs727502997RCV000150555|RCV000283641|RCV000301234|RCV000340926|RCV000588501|RCV001087334|RCV001188350; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN517202|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:6074675560447556044CT6:g.7556044C>TClinGen:CA005476C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)1832DSPConflicting interpretations of pathogenicityrs188516326RCV000150556|RCV000313888|RCV000335027|RCV000397112|RCV000462579|RCV000771368; NMedGen:CN169374|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0675560497556049AG6:g.7556049A>GClinGen:CA005503
NM_004415.4(DSP):c.273+10C>T1832DSPBenign/Likely benignrs56148603RCV000038013|RCV000269015|RCV000274004|RCV000312765|RCV000475126; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0675560637556063CT6:g.7556063C>TClinGen:CA005523C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)1832DSPUncertain significance-1RCV001162437|RCV001162438|RCV001162439|RCV001190883; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675583897558389GA6:g.7558389G>A-
NM_004415.4(DSP):c.718G>C (p.Ala240Pro)1832DSPUncertain significance-1RCV001164474|RCV001164475|RCV001164476; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675630057563005GC6:g.7563005G>C-
NM_004415.4(DSP):c.727-11T>C1832DSPUncertain significancers886061745RCV000268002|RCV000320821|RCV000326376; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675639587563958TC6:g.7563958T>CClinGen:CA10627591C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)1832DSPConflicting interpretations of pathogenicityrs201930322RCV000038117|RCV000337806|RCV000371415|RCV000377642|RCV000467769|RCV000777710|RCV000786123|RCV001256830; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0675657037565703GA6:g.7565703G>AClinGen:CA007809
NM_004415.4(DSP):c.913A>G (p.Ile305Val)1832DSPUncertain significancers17604693RCV000279302|RCV000311275|RCV000350684|RCV000621000|RCV001187912|RCV001227890; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675657277565727AG6:g.7565727A>GClinGen:CA053014
NM_004415.4(DSP):c.939C>T (p.Ser313=)1832DSPConflicting interpretations of pathogenicityrs766580649RCV000214984|RCV000264555|RCV000304703|RCV000361568|RCV000395114|RCV001187858; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:60765675657537565753CT6:g.7565753C>TClinGen:CA053203C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)1832DSPUncertain significancers200476515RCV000038121|RCV000232142|RCV000263737|RCV000322105|RCV000355871|RCV000620186|RCV000766874|RCV000770231; NMedGen:CN169374|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:00675666137566613CT6:g.7566613C>TClinGen:CA007889
NM_004415.4(DSP):c.1149A>G (p.Glu383=)1832DSPConflicting interpretations of pathogenicityrs572980966RCV000295399|RCV000373493|RCV000386417|RCV001171085; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675680227568022AG6:g.7568022A>GClinGen:CA027087
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)1832DSPLikely benignrs146737031RCV000235931|RCV000288657|RCV000294443|RCV000347023|RCV000405573|RCV000615367|RCV001179326; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:001675680277568027CT6:g.7568027C>TClinGen:CA027108C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1206G>A (p.Lys402=)1832DSPConflicting interpretations of pathogenicityrs150422458RCV000154520|RCV000248482|RCV000306089|RCV000341310|RCV000360771|RCV000586565|RCV000771129|RCV001084107; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN517202|Human Phenotype Ontology:HP:0675680797568079GA6:g.7568079G>AClinGen:CA004810
NM_004415.4(DSP):c.1469G>A (p.Arg490His)1832DSPUncertain significancers747815091RCV000262316|RCV000297782|RCV000357218|RCV000394321|RCV000477531|RCV000618799|RCV001184739; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675694687569468GA6:g.7569468G>AClinGen:CA028300
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)1832DSPBenignrs28763961RCV000037993|RCV000242202|RCV000331609|RCV000332582|RCV000367547|RCV000473405|RCV000776055; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056675694807569480AT6:g.7569480A>TClinGen:CA004966C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1488G>A (p.Thr496=)1832DSPBenign/Likely benignrs35820473RCV000037994|RCV000234308|RCV000250673|RCV000328806|RCV000382508|RCV000383353|RCV000770236|RCV001086570; NMedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0675694877569487GA6:g.7569487G>AClinGen:CA004981
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)1832DSPUncertain significancers748790273RCV000457295|RCV000786125|RCV001159661|RCV001159662|RCV001161048|RCV001184030; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN517202|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:29316675695617569561AC6:g.7569561A>CClinGen:CA028703
NM_004415.4(DSP):c.1574+14G>T1832DSPConflicting interpretations of pathogenicityrs200443042RCV000037996|RCV001161049|RCV001161050|RCV001161051; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675695877569587GT6:g.7569587G>TClinGen:CA005026CN169374 not specified;
NM_004415.4(DSP):c.1575-15C>G1832DSPConflicting interpretations of pathogenicityrs369184165RCV000610554|RCV001161052|RCV001161053|RCV001161054|RCV001176071; NMedGen:CN169374|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675706557570655CG6:g.7570655C>GClinGen:CA028898CN169374 not specified;
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)1832DSPConflicting interpretations of pathogenicityrs148147581RCV000148476|RCV000150560|RCV000284191|RCV000285554|RCV000476727|RCV000515316|RCV000617402|RCV000626864|RCV000735747|RCV000766877|RCV000771793; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:60567675707917570791GA6:g.7570791G>AClinGen:CA004119C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1743C>T (p.Ala581=)1832DSPConflicting interpretations of pathogenicityrs139095230RCV000154709|RCV000231994|RCV000335979|RCV000336664|RCV000406249|RCV001171089; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:00675716577571657CT6:g.7571657C>TClinGen:CA005132C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)1832DSPConflicting interpretations of pathogenicityrs34239595RCV000038000|RCV000157188|RCV000172534|RCV000246406|RCV000276099|RCV000311371|RCV000370655|RCV000771809|RCV001086744|RCV001095237; NMedGen:CN169374|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MO675716927571692AG6:g.7571692A>GClinGen:CA005151
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)1832DSPUncertain significancers764951792RCV000271772|RCV000307717|RCV000322152|RCV000686489|RCV001188878; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675717547571754GA6:g.7571754G>AClinGen:CA030240
NM_004415.4(DSP):c.1848G>A (p.Gln616=)1832DSPUncertain significance-1RCV001164684|RCV001164685|RCV001164686; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675717627571762GA6:g.7571762G>A-
NM_004415.4(DSP):c.1903+4G>A1832DSPConflicting interpretations of pathogenicity-1RCV001159760|RCV001164687|RCV001164688|RCV001188930; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675718217571821GA6:g.7571821G>A-
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)1832DSPUncertain significancers1363445022RCV000641817|RCV000786306|RCV001159761|RCV001159762|RCV001159763; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN517202|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675722427572242CT6:g.7572242C>TClinGen:CA362680493
NM_004415.4(DSP):c.2131-5G>C1832DSPConflicting interpretations of pathogenicity-1RCV001161171|RCV001161172|RCV001161173|RCV001187387; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675743147574314GC6:g.7574314G>C-
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)1832DSPUncertain significance-1RCV001162728|RCV001162729|RCV001162730; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675744347574434TC6:g.7574434T>C-
NM_004415.4(DSP):c.2247A>G (p.Leu749=)1832DSPConflicting interpretations of pathogenicityrs28763963RCV000278803|RCV000294285|RCV000374685|RCV000542933|RCV000771810; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675744357574435AG6:g.7574435A>GClinGen:CA032278
NM_004415.4(DSP):c.2259G>A (p.Leu753=)1832DSPUncertain significance-1RCV001162731|RCV001162732|RCV001164785; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675744477574447GA6:g.7574447G>A-
NM_004415.4(DSP):c.2346C>T (p.Asp782=)1832DSPConflicting interpretations of pathogenicityrs139071827RCV000038007|RCV000234774|RCV000244439|RCV000314301|RCV000349114|RCV000402455|RCV000776152|RCV001084673; NMedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0675749387574938CT6:g.7574938C>TClinGen:CA005333
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)1832DSPConflicting interpretations of pathogenicityrs778350289RCV000641805|RCV001164786|RCV001164787|RCV001164788|RCV001186671; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:00675749527574952AG6:g.7574952A>GClinGen:CA032952C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)1832DSPUncertain significancers755067397RCV000266242|RCV000364453|RCV000395566|RCV000460397|RCV001178102; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675749697574969GA6:g.7574969G>AClinGen:CA032987
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)1832DSPUncertain significancers770105310RCV000267251|RCV000302630|RCV000317742|RCV000361925|RCV001188867; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:15866675749967574996GA6:g.7574996G>AClinGen:CA033109
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)1832DSPUncertain significance-1RCV001159874|RCV001159875|RCV001159876|RCV001178945; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675756737575673CT6:g.7575673C>T-
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)1832DSPConflicting interpretations of pathogenicityrs142429411RCV000038010|RCV000238965|RCV000242786|RCV000263694|RCV000318707|RCV000372307|RCV000590388|RCV000769221|RCV001082571; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MedGen:CN230736|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011472,MedGen:C18675756877575687CT6:g.7575687C>TClinGen:CA005421C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.2631G>A (p.Arg877=)1832DSPBenignrs1016835RCV000038011|RCV000250214|RCV000292946|RCV000352543|RCV000388191|RCV000775975; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MON675765277576527GA6:g.7576527G>AClinGen:CA005450
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)1832DSPBenign/Likely benignrs146407262RCV000038012|RCV000284266|RCV000339335|RCV000344374|RCV000405620|RCV000587575|RCV000769223|RCV001086676; NMedGen:CN169374|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS10675765697576569TC6:g.7576569T>CClinGen:CA005484
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)1832DSPUncertain significancers749051278RCV000354548|RCV000394733|RCV000404899|RCV000470197|RCV000757185|RCV001179332; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675766157576615CT6:g.7576615C>TClinGen:CA034721
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser)1832DSPUncertain significance-1RCV001161280|RCV001161281|RCV001162839; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675766157576615CA6:g.7576615C>A-
NM_004415.4(DSP):c.2723G>A (p.Arg908His)1832DSPConflicting interpretations of pathogenicityrs142494121RCV000154408|RCV000172535|RCV000275053|RCV000300911|RCV000330101|RCV000619767|RCV000771121|RCV001083035; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736|Human Phenotype Ontology:HP:0675766197576619GA6:g.7576619G>AClinGen:CA005516
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)1832DSPConflicting interpretations of pathogenicityrs755099716RCV000181305|RCV001162840|RCV001164896|RCV001164897|RCV001184499; NMedGen:CN517202|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675766617576661CT6:g.7576661C>TClinGen:CA005581
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)1832DSPConflicting interpretations of pathogenicityrs145933612RCV000038015|RCV000238651|RCV000276162|RCV000370699|RCV000473091|RCV000771365|RCV001095285|RCV001256834; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:60567675766697576669CT6:g.7576669C>TClinGen:CA005587
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)1832DSPConflicting interpretations of pathogenicityrs139799237RCV000181307|RCV000283495|RCV000291383|RCV000327634|RCV000456401|RCV000621213|RCV000777766|RCV000853132|RCV001256832; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0675766707576670GA6:g.7576670G>AClinGen:CA005594
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)1832DSPBenign/Likely benignrs80325569RCV000029679|RCV000038019|RCV000224281|RCV000245074|RCV000280065|RCV000405945|RCV000769224|RCV001083761|RCV001095176; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|Human Phenotyp675772137577213GA6:g.7577213G>AClinGen:CA005623
NM_004415.4(DSP):c.2862C>T (p.Cys954=)1832DSPBenignrs2064217RCV000038021|RCV000368899|RCV000397417|RCV000402854|RCV000619821|RCV000775994; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MON675772607577260CT6:g.7577260C>TClinGen:CA005657
NM_004415.4(DSP):c.2876_2877+3del1832DSPPathogenicrs730880023RCV000157032; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675772727577276TTAAGGT6:g.7577272_7577276delOMIM:125647.0018,ClinGen:CA185898
NM_004415.4(DSP):c.2878-4G>A1832DSPUncertain significancers758303966RCV000270858|RCV000315413|RCV000370075; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675780087578008GA6:g.7578008G>AClinGen:CA036027
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)1832DSPUncertain significancers746346559RCV000704731|RCV001161395|RCV001161396|RCV001161397|RCV001181825; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:00675781007578100CT6:g.7578100C>T-
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)1832DSPUncertain significancers751361395RCV000272182|RCV000322535|RCV000379457|RCV000470079|RCV000485378|RCV001190426; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675795697579569CT6:g.7579569C>TClinGen:CA037298
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)1832DSPConflicting interpretations of pathogenicityrs756341143RCV000287261|RCV000316681|RCV000373529|RCV000615373|RCV000867540|RCV001187914; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN169374|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528675795707579570GA6:g.7579570G>AClinGen:CA037319
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)1832DSPConflicting interpretations of pathogenicityrs372440854RCV000216605|RCV000241632|RCV000294045|RCV000338741|RCV000351324|RCV000587379|RCV000776183|RCV001079139; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN517202|Human Phenotype Ontology:HP:0675797267579726CT6:g.7579726C>TClinGen:CA037736
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)1832DSPUncertain significancers768455823RCV000531336|RCV000786120|RCV001165020|RCV001165021|RCV001165022|RCV001177349; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN517202|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:00675797617579761GA6:g.7579761G>AClinGen:CA037833
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly)1832DSPUncertain significancers886061746RCV000345587|RCV000395512|RCV000405001; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675798127579812AG6:g.7579812A>GClinGen:CA10627594
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)1832DSPUncertain significance-1RCV001158311|RCV001158312|RCV001158313|RCV001188751; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675798467579846AC6:g.7579846A>C-
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)1832DSPConflicting interpretations of pathogenicityrs148894066RCV000155792|RCV000265470|RCV000310488|RCV000358299|RCV000463442|RCV000771827; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528675799307579930CT6:g.7579930C>TClinGen:CA005818
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)1832DSPUncertain significancers751566392RCV000262787|RCV000295038|RCV000386997; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675800247580024GA6:g.7580024G>AClinGen:CA038480
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)1832DSPConflicting interpretations of pathogenicityrs535202724RCV000150568|RCV000288923|RCV000352140|RCV000381164|RCV000620762|RCV000641836|RCV000777712; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN230736|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056675800737580073CT6:g.7580073C>TClinGen:CA004431
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)1832DSPUncertain significancers1561697968RCV000703536|RCV001163042|RCV001163043|RCV001163044|RCV001183567; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:00675801937580193AG6:g.7580193A>G-
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)1832DSPUncertain significancers138907450RCV000154713|RCV000342008|RCV000403440|RCV000404310|RCV000459782|RCV000620854|RCV000723628|RCV000771831; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528675802857580285AC6:g.7580285A>CClinGen:CA004279
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)1832DSPBenign/Likely benignrs184154918RCV000154711|RCV000262391|RCV000297493|RCV000301232|RCV000354640|RCV000586281|RCV000619090|RCV000771364|RCV000852993|RCV001085944; NMedGen:CN169374|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:60453675803467580346GA6:g.7580346G>AClinGen:CA004286C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)1832DSPBenign/Likely benignrs61731476RCV000038032|RCV000204773|RCV000249259|RCV000275312|RCV000367491|RCV000371155|RCV000776024; NMedGen:CN169374|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675803867580386GA6:g.7580386G>AClinGen:CA004313
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)1832DSPConflicting interpretations of pathogenicityrs148478829RCV000038034|RCV000253751|RCV000269608|RCV000291041|RCV000327042|RCV000463312|RCV000771828|RCV001086611; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN517202|Human Phenotype Ontology:HP:0675804887580488TC6:g.7580488T>CClinGen:CA004359
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)1832DSPUncertain significancers569786610RCV000286226|RCV000343529|RCV000377193|RCV001187919; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675804947580494GC6:g.7580494G>CClinGen:CA040075
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)1832DSPUncertain significancers200745877RCV000685855|RCV000773962|RCV001158421|RCV001158422|RCV001158423; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphan675805407580540AG6:g.7580540A>G-
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)1832DSPBenign/Likely benignrs77758574RCV000038035|RCV000224825|RCV000239236|RCV000337518|RCV000402762|RCV000771263|RCV001079170|RCV001095208; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:00675805647580564AT6:g.7580564A>TClinGen:CA004379
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)1832DSPConflicting interpretations of pathogenicityrs28763965RCV000038041|RCV000148477|RCV000157197|RCV000172538|RCV000238741|RCV000368914|RCV000397854|RCV000622004|RCV000771820|RCV000845543|RCV001085365|RCV001095209; NMedGen:CN169374|MONDO:MONDO:0016342,MedGen:C4274968, Orphanet:217656|Human Phenotype Ontology:HP:0011664,MedGen:C4021133|MedGen:CN517202|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphan675807957580795CG6:g.7580795C>GClinGen:CA004444
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)1832DSPConflicting interpretations of pathogenicityrs370063434RCV000270456|RCV000362744|RCV000366411|RCV000559827|RCV001188675; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675807967580796GA6:g.7580796G>AClinGen:CA041197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)1832DSPBenign/Likely benignrs140029036RCV000038042|RCV000229433|RCV000264780|RCV000278376|RCV000322203|RCV000620886|RCV000776085|RCV001082232; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN230736|Human Phenotype Ontology:HP:0675808067580806GA6:g.7580806G>AClinGen:CA004457
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)1832DSPBenign/Likely benignrs113902911RCV000038043|RCV000202684|RCV000348311|RCV000374137|RCV000617274|RCV000770244|RCV000845305|RCV000852994|RCV001084120|RCV001095244; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN230736|Human Phenotype Ontology:HP:00675808787580878GT6:g.7580878G>TClinGen:CA004483
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)1832DSPUncertain significancers760433367RCV000215393|RCV000294546|RCV000352223|RCV000407699|RCV001183806; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675809017580901AC6:g.7580901A>CClinGen:CA041687C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)1832DSPBenignrs2076299RCV000038050|RCV000247265|RCV000301876|RCV000307957|RCV000390835|RCV000771058|RCV000845299; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MON675809587580958AG6:g.7580958A>GClinGen:CA004536,UniProtKB:P15924#VAR_020468
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys)1832DSPBenignrs28763966RCV000038054|RCV000246748|RCV000266738|RCV000305773|RCV000359064|RCV000473526|RCV000776075; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056675810017581001CA6:g.7581001C>AClinGen:CA004555,UniProtKB:P15924#VAR_065695
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe)1832DSPBenign/Likely benignrs141227126RCV000124828|RCV000180988|RCV000260972|RCV000274065|RCV000318522|RCV000619367|RCV000771265|RCV001082561; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN230736|Human Phenotype Ontology:HP:0675810117581011GT6:g.7581011G>TClinGen:CA004128
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)1832DSPBenign/Likely benignrs28763967RCV000038052|RCV000296538|RCV000331603|RCV000388441|RCV000434359|RCV000584761|RCV000621921|RCV000776035|RCV000852996|RCV001080033; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN517202|MedGen:C0520806; MONDO:MONDO:0016587,MedGen:C0675810327581032CT6:g.7581032C>TClinGen:CA004132,UniProtKB:P15924#VAR_065696C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)1832DSPUncertain significancers796530013RCV000293460|RCV000348340|RCV000382801|RCV001057251|RCV001187920; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675811027581102AG6:g.7581102A>GClinGen:CA10627563
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)1832DSPConflicting interpretations of pathogenicityrs186842903RCV000172539|RCV000223681|RCV000304932|RCV000335501|RCV000405660|RCV000617663|RCV000777774|RCV001082657; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN230736|Human Phenotype Ontology:HP:0675811647581164AG6:g.7581164A>GClinGen:CA004153
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)1832DSPLikely benignrs201213622RCV000244426|RCV000265072|RCV000310635|RCV000359779|RCV000365341|RCV000608702|RCV000777727; NMedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS10675811757581175GA6:g.7581175G>AClinGen:CA042755
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)1832DSPConflicting interpretations of pathogenicityrs373385083RCV000282377|RCV000331338|RCV000337340|RCV000385908|RCV001178093; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:15866675812807581280GC6:g.7581280G>CClinGen:CA10624633
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)1832DSPConflicting interpretations of pathogenicityrs200243976RCV000157200|RCV000373402|RCV000391545|RCV000435354|RCV000547728|RCV000619025|RCV000777787|RCV001095250; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN517202|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:60745675813097581309GT6:g.7581309G>TClinGen:CA004187
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)1832DSPUncertain significancers757753880RCV000520322|RCV000796190|RCV001163264|RCV001163265|RCV001163266|RCV001189164|RCV001198030; NMedGen:CN517202|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:29316675814857581485GA6:g.7581485G>AClinGen:CA043810
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)1832DSPConflicting interpretations of pathogenicityrs886061747RCV000302895|RCV000308692|RCV000403958|RCV000872675|RCV001187917; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675814877581487GA6:g.7581487G>AClinGen:CA10627595
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)1832DSPConflicting interpretations of pathogenicityrs147415451RCV000154715|RCV000172542|RCV000363258|RCV000369571|RCV000405736|RCV000618693|RCV000769231|RCV000853150|RCV001084754; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736|Human Phenotype Ontology:HP:0675816017581601CA6:g.7581601C>AClinGen:CA004621
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)1832DSPUncertain significancers377344768RCV000777604|RCV001158638|RCV001158639|RCV001158640; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655,Orpha675816097581609TG6:g.7581609T>G-
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)1832DSPBenignrs6929069RCV000038061|RCV000275007|RCV000330163|RCV000356673|RCV000430654|RCV000620084|RCV000771053; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN517202|MedGen:CN230736|Human Phenotype Ontology:HP:0675816367581636GA6:g.7581636G>AClinGen:CA004594,UniProtKB:P15924#VAR_023815
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)1832DSPConflicting interpretations of pathogenicityrs748263306RCV000285785|RCV000322110|RCV000371866|RCV000872548|RCV001188877; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675816407581640CT6:g.7581640C>TClinGen:CA044245
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)1832DSPConflicting interpretations of pathogenicityrs142885240RCV000038062|RCV000172543|RCV000291666|RCV000376629|RCV000406700|RCV000415071|RCV000621777|RCV000769232|RCV001082740|RCV001095215; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:00675816417581641GA6:g.7581641G>AClinGen:CA004588C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)1832DSPConflicting interpretations of pathogenicityrs763355815RCV000288262|RCV000312304|RCV000352546|RCV000406655|RCV000777687|RCV000870386; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675817067581706CT6:g.7581706C>TClinGen:CA044490
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)1832DSPBenign/Likely benignrs530612211RCV000156212|RCV000299267|RCV000354193|RCV000366942|RCV000390842|RCV000477526|RCV000771366; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:60765675817277581727GC6:g.7581727G>CClinGen:CA004582
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)1832DSPConflicting interpretations of pathogenicityrs376186141RCV000259311|RCV000323845|RCV000360904|RCV000418655|RCV000536757|RCV001092981|RCV001187310; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN169374|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528675817397581739TC6:g.7581739T>CClinGen:CA044635
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)1832DSPUncertain significance-1RCV001163382|RCV001163383|RCV001163384; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675828867582886GA6:g.7582886G>A-
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)1832DSPBenign/Likely benignrs78652302RCV000038065|RCV000238901|RCV000290923|RCV000385269|RCV000588812|RCV000621155|RCV000769233|RCV000852997|RCV001082506|RCV001095253; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN517202|MedGen:CN230736|Human Phenotyp675829937582993AT6:g.7582993A>TClinGen:CA006474,UniProtKB:P15924#VAR_065697C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)1832DSPConflicting interpretations of pathogenicityrs730882116RCV000154714|RCV000298785|RCV000338424|RCV000391258|RCV000554991|RCV000771830; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0675830187583018AC6:g.7583018A>CClinGen:CA006496
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)1832DSPConflicting interpretations of pathogenicityrs727503004RCV000150575|RCV000302959|RCV000357734|RCV000406140|RCV001189906; NMedGen:CN169374|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675830397583039GA6:g.7583039G>AClinGen:CA006508C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)1832DSPConflicting interpretations of pathogenicityrs562015789RCV000268654|RCV000272334|RCV000308765|RCV000481903|RCV000771806|RCV001084945; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675830887583088AT6:g.7583088A>TClinGen:CA045279
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)1832DSPConflicting interpretations of pathogenicityrs760974941RCV000641853|RCV001158745|RCV001158746|RCV001158747|RCV001180340; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:00675831447583144GA6:g.7583144G>AClinGen:CA045415C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter)1832DSPPathogenic/Likely pathogenicrs121912996RCV000018337|RCV000578822|RCV001048758; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN517202|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282675832957583295CT6:g.7583295C>TClinGen:CA006621,OMIM:125647.0008
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)1832DSPUncertain significancers763026647RCV000280697|RCV000371937|RCV000375397; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675833157583315TC6:g.7583315T>CClinGen:CA3628100
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)1832DSPUncertain significancers140663822RCV000181334|RCV000286712|RCV000341732|RCV000391599; NMedGen:CN517202|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675833227583322AG6:g.7583322A>GClinGen:CA006637
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)1832DSPConflicting interpretations of pathogenicityrs557263443RCV000308156|RCV000362870|RCV000404049|RCV000463580|RCV000777689; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00675835337583533GA6:g.7583533G>AClinGen:CA046661
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)1832DSPPathogenicrs397514040RCV000018338|RCV000556858; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282675835857583586CTTC6:g.7583585_7583586delClinGen:CA006713,OMIM:125647.0009C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)1832DSPBenign/Likely benignrs41302885RCV000038072|RCV000172544|RCV000244881|RCV000274742|RCV000367032|RCV000415621|RCV000776062|RCV001085925; NMedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0675837037583703GA6:g.7583703G>AClinGen:CA006778C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala)1832DSPUncertain significance-1RCV001163482|RCV001163773|RCV001163774; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675838537583853AG6:g.7583853A>G-
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)1832DSPBenign/Likely benignrs28763969RCV000038074|RCV000341093|RCV000378485|RCV000384052|RCV000477319|RCV000617306|RCV000776028|RCV001082896; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN517202|MedGen:CN230736|Human Phenotype Ontology:HP:0675838857583885TC6:g.7583885T>CClinGen:CA006901
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)1832DSPUncertain significancers146642551RCV000181343|RCV000295633|RCV000344461|RCV000406693|RCV000800064|RCV001181803; NMedGen:CN517202|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528675839747583974GA6:g.7583974G>AClinGen:CA006950
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)1832DSPConflicting interpretations of pathogenicityrs149070106RCV000038077|RCV000312693|RCV000352732|RCV000355781|RCV000590624|RCV000619860|RCV000776149|RCV001082443; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN517202|MedGen:CN230736|Human Phenotype Ontology:HP:0675841737584173TA6:g.7584173T>AClinGen:CA007013
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)1832DSPBenign/Likely benignrs181378432RCV000168654|RCV000828348|RCV001087835|RCV001158863|RCV001158864|RCV001158865|RCV001187315; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675842947584294AT6:g.7584294A>TClinGen:CA007022
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)1832DSPConflicting interpretations of pathogenicityrs147000526RCV000038079|RCV000148480|RCV000171919|RCV000267252|RCV000297547|RCV000621753|RCV000769239|RCV001079594|RCV001095181; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MedGen:CN517202|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN230736|Human Phenotyp675843767584376CG6:g.7584376C>GClinGen:CA004685C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)1832DSPUncertain significancers886061748RCV000265357|RCV000327523|RCV000358408; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675844307584430TC6:g.7584430T>CClinGen:CA10627574
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)1832DSPUncertain significancers777901747RCV000287663|RCV000384308|RCV000387631; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675844637584463TC6:g.7584463T>CClinGen:CA10627604
NM_004415.4(DSP):c.7122C>T (p.Thr2374=)1832DSPBenignrs2076300RCV000038083|RCV000280755|RCV000295739|RCV000391444|RCV000621629|RCV000771045|RCV000845411; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MON675846177584617CT6:g.7584617C>TClinGen:CA007128
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)1832DSPConflicting interpretations of pathogenicityrs141709096RCV000168655|RCV000298541|RCV000338092|RCV000360346|RCV000468695|RCV000617624|RCV000777713; NMedGen:CN169374|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528675846207584620GA6:g.7584620G>AClinGen:CA007142
NM_004415.4(DSP):c.7248del (p.Phe2416fs)1832DSPPathogenicrs730880024RCV000157033|RCV000498058; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN517202675847387584738ATA6:g.7584738_7584738delClinGen:CA007160,OMIM:125647.0019
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)1832DSPBenign/Likely benignrs78843072RCV000038086|RCV000272798|RCV000302052|RCV000406305|RCV000619300|RCV000641828|RCV000769241; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN230736|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056675847737584773TC6:g.7584773T>CClinGen:CA007181
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)1832DSPBenign/Likely benignrs756527780RCV000276100|RCV000325577|RCV000333470|RCV000363965|RCV000429989|RCV000471148|RCV000777765; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:15866675850437585043GA6:g.7585043G>AClinGen:CA050054
NM_004415.4(DSP):c.7551G>A (p.Val2517=)1832DSPConflicting interpretations of pathogenicity-1RCV001163891|RCV001163892|RCV001163893|RCV001192218; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha675850467585046GA6:g.7585046G>A-
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)1832DSPConflicting interpretations of pathogenicityrs397516957RCV000038089|RCV000293672|RCV000318144|RCV000385620|RCV000555571|RCV000777800; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0675850527585052GA6:g.7585052G>AClinGen:CA007225
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)1832DSPUncertain significancers142078450RCV000218025|RCV000278298|RCV000335658|RCV000378413|RCV000814505|RCV001177077; NMedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0675851177585117GA6:g.7585117G>AClinGen:CA050314
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)1832DSPBenign/Likely benignrs28763970RCV000124830|RCV000309573|RCV000339026|RCV000348027|RCV000391733|RCV000587701|RCV000620556|RCV000769242|RCV001086040; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:60765675852297585229CT6:g.7585229C>TClinGen:CA007258
NM_004415.4(DSP):c.7767A>G (p.Ser2589=)1832DSPUncertain significance-1RCV001158960|RCV001158961|RCV001158962; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675852627585262AG6:g.7585262A>G-
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)1832DSPUncertain significancers199597935RCV000171921|RCV001158963|RCV001158964|RCV001158965|RCV001184995; NMedGen:CN517202|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675853127585312GA6:g.7585312G>AClinGen:CA007281
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)1832DSPConflicting interpretations of pathogenicityrs147484870RCV000277919|RCV000370195|RCV000402482|RCV000521787|RCV000777728; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe675853787585378TC6:g.7585378T>CClinGen:CA051060
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)1832DSPConflicting interpretations of pathogenicityrs116888866RCV000150581|RCV000157210|RCV000245063|RCV000262145|RCV000319713|RCV000369032|RCV000490472|RCV000771821|RCV000987654|RCV001086541; NMedGen:CN169374|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MedGen:CN230736|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:001188675854117585411GA6:g.7585411G>AClinGen:CA007320
NM_004415.4(DSP):c.7995G>A (p.Thr2665=)1832DSPBenign/Likely benignrs35379048RCV000038093|RCV000228459|RCV000261398|RCV000372090|RCV000380446|RCV000771262; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675854907585490GA6:g.7585490G>AClinGen:CA007343
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)1832DSPConflicting interpretations of pathogenicityrs144275591RCV000235966|RCV000248548|RCV000283622|RCV000287598|RCV000384363|RCV000424182|RCV000777797; NMONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675855147585514CT6:g.7585514C>TClinGen:CA051387
NM_004415.4(DSP):c.8175C>A (p.Arg2725=)1832DSPBenignrs11558731RCV000038097|RCV000246551|RCV000314429|RCV000345016|RCV000407224|RCV000469955|RCV000776009; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056675856707585670CA6:g.7585670C>AClinGen:CA007412
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)1832DSPConflicting interpretations of pathogenicityrs201397978RCV000150582|RCV000172545|RCV000299334|RCV000356762|RCV000407212|RCV000771201|RCV001088175; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human Phenotype Ontology:HP:0001638,MONDO:MON675856867585686TC6:g.7585686T>CClinGen:CA007423
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)1832DSPUncertain significance-1RCV001163976|RCV001163977|RCV001163978; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675856947585694GA6:g.7585694G>A-
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)1832DSPUncertain significancers755508926RCV000298299|RCV000320713|RCV000360130; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675857127585712GA6:g.7585712G>AClinGen:CA051809
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)1832DSPBenign/Likely benignrs34884895RCV000038099|RCV000232363|RCV000271557|RCV000329012|RCV000377767|RCV000381329|RCV000770250|RCV000853000; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675857957585795CA6:g.7585795C>AClinGen:CA007447
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)1832DSPUncertain significancers727504570RCV000155738|RCV001159059|RCV001160404|RCV001160405; NMedGen:CN169374|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675858697585869TA6:g.7585869T>AClinGen:CA007514CN169374 not specified;
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)1832DSPConflicting interpretations of pathogenicityrs138329459RCV000038105|RCV000172546|RCV000203133|RCV000337923|RCV000392037|RCV000620878|RCV000777790|RCV001085488|RCV001095186; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN230736|Human Phenotyp675859507585950AC6:g.7585950A>CClinGen:CA007553
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)1832DSPConflicting interpretations of pathogenicityrs201826850RCV000171924|RCV000618112|RCV001088341|RCV001160406|RCV001160407|RCV001160408|RCV001183474; NMedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:60765675859577585957CT6:g.7585957C>TClinGen:CA007566C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)1832DSPConflicting interpretations of pathogenicityrs142717240RCV000038106|RCV000302977|RCV000357526|RCV000405429|RCV000477077|RCV000587297|RCV000619198|RCV000771367; NMedGen:CN169374|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528675859627585962CG6:g.7585962C>GClinGen:CA007575
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)1832DSPBenignrs2744380RCV000038104|RCV000241982|RCV000328251|RCV000363396|RCV000577940|RCV000577996|RCV000578053|RCV000775978; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282|MONDO:MONDO:0011831,MedGen:C18675859677585967GC6:g.7585967G>CClinGen:CA007601
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)1832DSPUncertain significancers764232504RCV000280318|RCV000281481|RCV000375466; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675860027586002GA6:g.7586002G>AClinGen:CA052621C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)1832DSPUncertain significance-1RCV001159156|RCV001159157|RCV001164065; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675860247586024TC6:g.7586024T>C-
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)1832DSPBenign/Likely benignrs28763971RCV000172750|RCV000202956|RCV000247844|RCV000342233|RCV000400542|RCV000756042|RCV000770253|RCV000853001|RCV001080914|RCV001095160; NMedGen:CN169374|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MedGen:CN517202|Human Phenotyp675861007586100AG6:g.7586100A>GClinGen:CA007748C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*39T>C1832DSPBenignrs145079869RCV000277138|RCV000332136|RCV000367013; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675861507586150TC6:g.7586150T>CClinGen:CA039761C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*43T>A1832DSPUncertain significance-1RCV001160513|RCV001160514|RCV001160515; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675861547586154TA6:g.7586154T>A-
NM_004415.4(DSP):c.*47T>C1832DSPLikely benignrs376397291RCV000259383|RCV000319460|RCV000374149; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675861587586158TC6:g.7586158T>CClinGen:CA042948C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*58T>C1832DSPUncertain significance-1RCV001162143|RCV001162144|RCV001162145; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675861697586169TC6:g.7586169T>C-
NM_004415.4(DSP):c.*62A>T1832DSPUncertain significancers182788116RCV000265545|RCV000285602|RCV000320637; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675861737586173AT6:g.7586173A>TClinGen:CA10627605C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*112A>G1832DSPUncertain significancers141059005RCV000290345|RCV000345255|RCV000349934; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675862237586223AG6:g.7586223A>GClinGen:CA10627576C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*137T>C1832DSPUncertain significancers756543548RCV000314905|RCV000407046|RCV000407048; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675862487586248TC6:g.7586248T>CClinGen:CA10624635C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*197C>T1832DSPBenignrs12250RCV000297258|RCV000302899|RCV000356719; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675863087586308CT6:g.7586308C>TClinGen:CA10624636C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*203A>G1832DSPUncertain significance-1RCV001159258|RCV001159259|RCV001159260; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675863147586314AG6:g.7586314A>G-
NM_004415.4(DSP):c.*276_*278del1832DSPLikely benignrs144440643RCV000322855|RCV000357733|RCV000382079; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247675863877586389TCTCT6:g.7586387_7586389delClinGen:CA10627577C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*289C>T1832DSPUncertain significancers886061749RCV000268799|RCV000294200|RCV000328590; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675864007586400CT6:g.7586400C>TClinGen:CA10624637C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*300C>A1832DSPUncertain significancers886061750RCV000295554|RCV000336516|RCV000349226|RCV000389757; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:15866675864117586411CA6:g.7586411C>AClinGen:CA10627606C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*305C>A1832DSPUncertain significancers886061751RCV000300973|RCV000337746|RCV000391883|RCV000402088; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:15866675864167586416CA6:g.7586416C>AClinGen:CA10627607C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*325A>G1832DSPUncertain significance-1RCV001159261|RCV001159262|RCV001160618; NMONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165675864367586436AG6:g.7586436A>G-
NM_004415.4(DSP):c.*358A>T1832DSPUncertain significancers886061752RCV000267213|RCV000308300|RCV000361994; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675864697586469AT6:g.7586469A>TClinGen:CA10624638C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*384C>A1832DSPUncertain significancers886061753RCV000273178|RCV000330904|RCV000363096|RCV000366933; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868675864957586495CA6:g.7586495C>AClinGen:CA10622706C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*386G>T1832DSPUncertain significancers886061754RCV000276895|RCV000278317|RCV000331947|RCV000372831; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:24675864977586497GT6:g.7586497G>TClinGen:CA10622707C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*577G>A1832DSPUncertain significancers886061755RCV000284241|RCV000319233|RCV000373935; NMONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450675866887586688GA6:g.7586688G>AClinGen:CA10627578C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*598G>T1832DSPUncertain significancers886061756RCV000285516|RCV000345181|RCV000393688|RCV000398529; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:15866675867097586709GT6:g.7586709G>TClinGen:CA10627608C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*681C>A1832DSPUncertain significancers886061757RCV000309195|RCV000312626|RCV000366167|RCV000392305; NMONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:29316675867927586792CA6:g.7586792C>AClinGen:CA10624640
NM_004415.4(DSP):c.*762G>T1832DSPUncertain significance-1RCV001160619|RCV001162239|RCV001162240; NMONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687675868737586873GT6:g.7586873G>T-
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