Total 156 pathogenic variants reported for Naxos disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002230.4(JUP):c.909+6C>T SNV
Germline
Chr17:41767373 Conflicting classifications of pathogenicity not specified
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiomyopathy
Cardiac arrhythmia
Criteria Provided
Conflicting Classifications
CA137250 rs_193922705

14 SubmittersRCV000039091RCV000233778RCV000300788RCV000396251RCV001083847RCV001094541RCV001798014RCV001841528

NM_002230.4(JUP):c.1331G>A (p.Arg444His) SNV
Germline
Chr17:41763149 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA137129 rs_369507567

4 SubmittersRCV000039062RCV000533569RCV003162344

NM_002230.4(JUP):c.1377G>T (p.Leu459=) SNV
Germline
Chr17:41763103 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA137134 rs_147370522

11 SubmittersRCV000039063RCV000276108RCV000368329RCV000590207RCV000617982RCV000769490RCV001086669

NM_002230.4(JUP):c.1563A>G (p.Ala521=) SNV
Germline
Chr17:41758805 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiomyopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA137145 rs_149926974

13 SubmittersRCV000039066RCV000230244RCV000244640RCV000263093RCV000329892RCV000769489RCV001528990

NM_002230.4(JUP):c.1942G>A (p.Val648Ile) SNV
Germline
Chr17:41757519 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA137167 rs_143043662

19 SubmittersRCV000039072RCV000248914RCV000514183RCV000769487RCV000852718RCV001081355RCV001123568RCV001123569

NM_002230.4(JUP):c.2047-14C>G SNV
Germline
Chr17:41756228 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA137172 rs_116666639

9 SubmittersRCV000039073RCV000303696RCV000360785RCV001811279RCV002054748

NM_002230.4(JUP):c.2178C>T (p.Ile726=) SNV
Germline
Chr17:41755804 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiomyopathy
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA137188 rs_141295561

9 SubmittersRCV000039077RCV000547915RCV000618792RCV001124561RCV001124560RCV003486569RCV003974893

NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) SNV
Germline
Chr17:41755775 Conflicting classifications of pathogenicity not specified
Left ventricular noncompaction cardiomyopathy
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA137193 rs_151178348

11 SubmittersRCV000039078RCV000157253RCV000463617RCV000621167RCV000757414RCV001123480RCV001124559

NM_002230.4(JUP):c.297G>A (p.Ser99=) SNV
Germline
Chr17:41769589 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA137198 rs_200976464

7 SubmittersRCV000039079RCV000476168RCV000621188RCV001124950RCV001122177RCV001311885

NM_002230.4(JUP):c.486G>A (p.Ala162=) SNV
Germline
Chr17:41769190 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA137218 rs_113317262

8 SubmittersRCV000039083RCV000247430RCV000555135RCV001127938RCV001125828RCV001725951

NM_002230.4(JUP):c.545C>T (p.Ser182Leu) SNV
Germline
Chr17:41769131 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA137223 rs_145592971

5 SubmittersRCV000039084RCV001058398RCV002345304RCV003234936

NM_002230.4(JUP):c.708-7C>T SNV
Germline
Chr17:41767587 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA137234 rs_397517301

2 SubmittersRCV000039087RCV001431777

NM_002230.4(JUP):c.777C>T (p.Gly259=) SNV
Germline
Chr17:41767511 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA137235 rs_34890640

11 SubmittersRCV000039088RCV000589047RCV000769495RCV001081340RCV001122072RCV001122073RCV003974894

NM_002230.4(JUP):c.2031G>A (p.Pro677=) SNV
Germline
Chr17:41757430 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Condition: not provided
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiomyopathy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA291690 rs_188888662

11 SubmittersRCV000126387RCV000619251RCV000645217RCV001085716RCV001170358RCV001127663RCV001127664

NM_002230.4(JUP):c.*21C>A SNV
Germline
Chr17:41755723 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA291696 rs_41275669

4 SubmittersRCV000126393RCV001127585RCV001127586RCV001723692

NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) SNV
Germline
Chr17:41764942 Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy
not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308511 rs_150194093

8 SubmittersRCV000143904RCV000183495RCV000278374RCV000335744RCV000767065RCV000705144RCV002390299

NM_002230.4(JUP):c.*2C>T SNV
Germline
Chr17:41755742 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Cardiomyopathy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA176373 rs_112879398

7 SubmittersRCV000150846RCV000249782RCV000769484RCV001123476RCV001123477

NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) SNV
Germline
Chr17:41756192 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Ventricular fibrillation, paroxysmal familial, type 1
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Criteria Provided
Conflicting Classifications
CA176374 rs_147628503

8 SubmittersRCV000150847RCV000227308RCV000208373RCV001125575RCV001125576RCV002415637RCV002221461RCV003149917

NM_002230.4(JUP):c.801C>T (p.Ala267=) SNV
Germline
Chr17:41767487 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Naxos disease
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA176399 rs_138397457

7 SubmittersRCV000150852RCV000531878RCV001122071RCV002415638RCV001122070RCV001704083

NM_002230.4(JUP):c.356C>T (p.Pro119Leu) SNV
Germline
Chr17:41769530 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA176409 rs_376123010

3 SubmittersRCV000150854RCV001071020RCV002453485

NM_002230.4(JUP):c.1959C>T (p.Ser653=) SNV
Germline
Chr17:41757502 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiomyopathy
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA181254 rs_375451560

9 SubmittersRCV000154725RCV000251516RCV000865141RCV001083868RCV001123567RCV001127667RCV003149940RCV003895056

NM_002230.4(JUP):c.926A>G (p.Asn309Ser) SNV
Germline
Chr17:41765051 Conflicting classifications of pathogenicity not specified
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA181264 rs_140606359

5 SubmittersRCV000154727RCV000171961RCV000467285RCV002372009

NM_002230.4(JUP):c.530G>A (p.Arg177Gln) SNV
Germline
Chr17:41769146 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA181274 rs_371481933

5 SubmittersRCV000154729RCV000621366RCV000702831RCV002243826

NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) SNV
Germline
Chr17:41757528 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA184163 rs_727504778

4 SubmittersRCV000156095RCV001850147RCV004019870

NM_002230.4(JUP):c.56C>T (p.Thr19Ile) SNV
Germline/somatic
Chr17:41771799 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
CA185075 rs_570878629

11 SubmittersRCV000156554RCV000253975RCV000315534RCV000393399RCV000656851RCV000692565RCV001375636

NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) SNV
Germline
Chr17:41757649 Conflicting classifications of pathogenicity not specified
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA185419 rs_531732438

7 SubmittersRCV000156716RCV000766385RCV001068833RCV003162646

NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) SNV
Germline
Chr17:41757676 Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA346371 rs_730880114

3 SubmittersRCV000157252RCV002408706RCV002492607

NM_002230.4(JUP):c.1807G>T (p.Val603Leu) SNV
Germline
Chr17:41757751 Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial, type 1
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA308581 rs_200327969

7 SubmittersRCV000157251RCV000645215RCV001124648RCV001124649RCV001719986RCV002408705RCV003149960RCV003965172

NM_002230.4(JUP):c.1366G>A (p.Val456Ile) SNV
Germline
Chr17:41763114 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy
not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308426 rs_78437817

8 SubmittersRCV000157250RCV000223572RCV000333556RCV000474354RCV000769491RCV001094480RCV001719985RCV002381507

NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) SNV
Germline
Chr17:41757696 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA237205 rs_752594411

6 SubmittersRCV000171957RCV000765351RCV002408745

NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) SNV
Germline
Chr17:41763156 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
not specified
Criteria Provided
Conflicting Classifications
CA237210 rs_142213474

6 SubmittersRCV000171958RCV000618640RCV001072022RCV001124751RCV001124750RCV001824660

NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) SNV
Germline
Chr17:41763308 Conflicting classifications of pathogenicity Condition: not provided
Cardiomyopathy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
not specified
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA237215 rs_199826380

11 SubmittersRCV000171959RCV000852719RCV001124754RCV001125740RCV001085221RCV002326943RCV001706115RCV003954999

NM_002230.4(JUP):c.526C>T (p.Arg176Trp) SNV
Germline
Chr17:41769150 Conflicting classifications of pathogenicity Condition: not provided
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Primary dilated cardiomyopathy
Naxos disease
Criteria Provided
Conflicting Classifications
CA237230 rs_368336007

8 SubmittersRCV000171963RCV000208296RCV000244325RCV000466475RCV000499623RCV001198755

NM_002230.4(JUP):c.352G>A (p.Glu118Lys) SNV
Germline
Chr17:41769534 Conflicting classifications of pathogenicity Condition: not provided
Left ventricular hypertrophy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA237235 rs_149004293

7 SubmittersRCV000171964RCV000678710RCV000705755RCV002453594

NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) SNV
Germline
Chr17:41755860 Conflicting classifications of pathogenicity not specified
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308431 rs_781804177

4 SubmittersRCV000183478RCV000767068RCV001327335RCV002415781

NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) SNV
Germline
Chr17:41757678 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308556 rs_781883243

3 SubmittersRCV000183506RCV001852358RCV003298239

NM_002230.4(JUP):c.1582G>A (p.Val528Ile) SNV
Germline
Chr17:41758786 Conflicting classifications of pathogenicity not specified
Cardiomyopathy
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308536 rs_368271628

6 SubmittersRCV000183501RCV000769488RCV000767066RCV001065041RCV002399670

NM_002230.4(JUP):c.958C>T (p.Arg320Cys) SNV
Germline
Chr17:41765019 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308576 rs_200740462

7 SubmittersRCV000183511RCV001085979RCV003225037RCV004020221

NM_002230.4(JUP):c.892G>A (p.Gly298Ser) SNV
Germline
Chr17:41767396 Conflicting classifications of pathogenicity Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA308501 rs_199597864

6 SubmittersRCV000251525RCV000475317RCV000587522RCV001293416

NM_002230.4(JUP):c.809T>A (p.Leu270Gln) SNV
Germline
Chr17:41767479 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_794729040

5 SubmittersRCV000692331RCV002223809RCV001264511RCV002415782

NM_002230.4(JUP):c.568G>A (p.Val190Met) SNV
Germline
Chr17:41769108 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308476 rs_370143312

5 SubmittersRCV000183488RCV000688743RCV001193379RCV002345643

NM_002230.4(JUP):c.529C>T (p.Arg177Trp) SNV
Germline
Chr17:41769147 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA308471 rs_148484473

5 SubmittersRCV000183487RCV001050476RCV002345642RCV003955111

NM_002230.4(JUP):c.509C>T (p.Ser170Leu) SNV
Germline
Chr17:41769167 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
not specified
Cardiovascular phenotype
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA308466 rs_782284038

6 SubmittersRCV000321164RCV000378103RCV000541609RCV000588554RCV001175368RCV002336467RCV003416106

NM_002230.4(JUP):c.427G>A (p.Ala143Thr) SNV
Germline
Chr17:41769459 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Criteria Provided
Conflicting Classifications
CA308461 rs_375788626

7 SubmittersRCV000183485RCV000471931RCV000786327RCV002326992RCV003150061

NM_002230.4(JUP):c.406G>C (p.Asp136His) SNV
Germline
Chr17:41769480 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA308456 rs_782392706

3 SubmittersRCV000183484RCV001056315RCV004020217

NM_002230.4(JUP):c.71C>A (p.Ser24Ter) SNV
Germline
Chr17:41771784 Pathogenic Naxos disease No Assertion Criteria Provided
CA212715 rs_782460555

1 SubmittersRCV000194470

NM_002230.4(JUP):c.468G>A (p.Pro156=) SNV
Germline
Chr17:41769418 Conflicting classifications of pathogenicity Naxos disease
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10575789 rs_886037753

4 SubmittersRCV000192505RCV001208428RCV002336520

NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) SNV
Germline
Chr17:41758753 Pathogenic Naxos disease No Assertion Criteria Provided
CA207164 rs_797046139

1 SubmittersRCV000193584

NM_002230.4(JUP):c.1500A>T (p.Ala500=) SNV
Germline
Chr17:41758868 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA354019 rs_869025443

2 SubmittersRCV000208467RCV003765346

NM_002230.4(JUP):c.902A>G (p.Glu301Gly) SNV
Germline
Chr17:41767386 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy
not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA353980 rs_782058451

5 SubmittersRCV000208313RCV000213286RCV000798524RCV000996539

NM_002230.4(JUP):c.578T>C (p.Met193Thr) SNV
Germline
Chr17:41769098 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Wolff-Parkinson-White pattern
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA087549 rs_139496777

6 SubmittersRCV000208130RCV000468133RCV000656166RCV001536180RCV002354587

NM_002230.4(JUP):c.560C>T (p.Ala187Val) SNV
Germline
Chr17:41769116 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA354027 rs_782370709

6 SubmittersRCV000208478RCV000587635RCV001089102RCV002345750RCV003897457

NM_002230.4(JUP):c.1054+7A>T SNV
Germline
Chr17:41764916 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Cardiomyopathy
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA8565309 rs_371988639

10 SubmittersRCV000214942RCV000341689RCV000404177RCV000461949RCV001726048RCV003150105RCV003917896

NM_002230.4(JUP):c.1218C>T (p.Asn406=) SNV
Germline
Chr17:41763262 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA8565252 rs_782565128

4 SubmittersRCV000219223RCV000621294RCV001124752RCV001124753RCV001446994

NM_002230.4(JUP):c.2086+13C>T SNV
Germline
Chr17:41756162 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA8565022 rs_199935213

7 SubmittersRCV000223443RCV000264830RCV000366558RCV001701801RCV002054947

NM_002230.4(JUP):c.546G>A (p.Ser182=) SNV
Germline
Chr17:41769130 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8565448 rs_202038498

12 SubmittersRCV000220195RCV000230519RCV000251485RCV000272417RCV000364561RCV000769496RCV001293192RCV001529234

NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) SNV
Germline
Chr17:41764938 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565314 rs_782301706

4 SubmittersRCV000221503RCV000810541RCV002390589

NM_002230.4(JUP):c.1774-6C>T SNV
Germline
Chr17:41757790 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Cardiomyopathy
Criteria Provided
Conflicting Classifications
CA8565111 rs_375016135

10 SubmittersRCV000226633RCV000611216RCV001125654RCV001125655RCV001529895RCV003486781

NM_002230.4(JUP):c.607C>T (p.Arg203Cys) SNV
Germline
Chr17:41769069 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565432 rs_147354282

5 SubmittersRCV000234226RCV000780357RCV001124846RCV001124847RCV002354649

NM_002230.4(JUP):c.1824G>A (p.Leu608=) SNV
Germline
Chr17:41757734 Conflicting classifications of pathogenicity Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA10587904 rs_376043057

3 SubmittersRCV000244622RCV000294325RCV000332980RCV001447540

NM_002230.4(JUP):c.*239G>A SNV
Germline
Chr17:41755505 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA10645640 rs_115919416

1 SubmittersRCV000265638RCV000376530

NM_002230.4(JUP):c.1995C>T (p.Ser665=) SNV
Germline
Chr17:41757466 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
JUP-related disorder
Criteria Provided
Conflicting Classifications
CA8565053 rs_782094877

4 SubmittersRCV000268505RCV000316685RCV002056596RCV002418185RCV003940274

NM_002230.4(JUP):c.1912A>C (p.Asn638His) SNV
Germline
Chr17:41757646 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8565090 rs_782658008

6 SubmittersRCV000262154RCV000355139RCV001046526RCV001764292RCV002411219RCV002282119

NM_002230.4(JUP):c.1806C>T (p.Arg602=) SNV
Germline
Chr17:41757752 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA8565106 rs_781934535

2 SubmittersRCV000288317RCV000389767RCV000557676

NM_002230.4(JUP):c.1587A>G (p.Gln529=) SNV
Germline
Chr17:41758781 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA10645644 rs_886052919

2 SubmittersRCV000298154RCV000355382RCV003765876

NM_002230.4(JUP):c.469-12T>C SNV
Germline
Chr17:41769219 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA8565465 rs_782699765

3 SubmittersRCV000267273RCV000324820RCV001613038RCV002522959

NM_002230.4(JUP):c.*623G>A SNV
Germline
Chr17:41755121 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10649206 rs_55634776

2 SubmittersRCV000335635RCV000396423RCV001785565

NM_002230.4(JUP):c.2208G>A (p.Pro736=) SNV
Germline
Chr17:41755774 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8564985 rs_371508357

3 SubmittersRCV000281761RCV000373914RCV001473182RCV002429280

NM_002230.4(JUP):c.1854C>T (p.Ala618=) SNV
Germline
Chr17:41757704 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
not specified
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565099 rs_782176670

4 SubmittersRCV000320216RCV000386393RCV000422836RCV001391854RCV003298384

NM_002230.4(JUP):c.2087-5C>T SNV
Germline
Chr17:41755900 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA10650097 rs_886052917

2 SubmittersRCV000307603RCV000394656RCV002056595

NM_002230.4(JUP):c.708-12C>G SNV
Germline
Chr17:41767592 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications
CA8565393 rs_781970079

2 SubmittersRCV000268892RCV000307710RCV002056597

NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) SNV
Germline
Chr17:41757431 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA8565047 rs_782622653

4 SubmittersRCV000443545RCV000620043RCV002480325

NM_002230.4(JUP):c.1902G>T (p.Leu634=) SNV
Germline
Chr17:41757656 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8565094 rs_145808264

6 SubmittersRCV000435391RCV000619931RCV000861975RCV001123570RCV001123571RCV001703610

NM_002230.4(JUP):c.1347C>T (p.Asp449=) SNV
Germline
Chr17:41763133 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA15903373 rs_763261901

5 SubmittersRCV000428208RCV001121974RCV001124749RCV002059613RCV002379345

NM_002230.4(JUP):c.708-6C>T SNV
Germline
Chr17:41767586 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiomyopathy
Criteria Provided
Conflicting Classifications
CA8565392 rs_782704213

3 SubmittersRCV000444151RCV000645212RCV001170585

NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) SNV
Germline
Chr17:41757479 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565056 rs_555499592

7 SubmittersRCV000757415RCV001079037RCV001127665RCV001127666RCV002418404

NM_002230.4(JUP):c.1280C>T (p.Thr427Met) SNV
Germline
Chr17:41763200 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565242 rs_781982717

4 SubmittersRCV000466222RCV001753895RCV002374789

NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) SNV
Germline
Chr17:41763258 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8565250 rs_369755953

3 SubmittersRCV000468384RCV002365645RCV002526424

NM_002230.4(JUP):c.959G>A (p.Arg320His) SNV
Germline
Chr17:41765018 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Left ventricular noncompaction 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565329 rs_781965392

5 SubmittersRCV000457167RCV001256954RCV001764429RCV002379466

NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) SNV
Germline
Chr17:41763108 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565223 rs_139559495

3 SubmittersRCV000489721RCV000546052RCV000621825

NM_002230.4(JUP):c.460G>A (p.Glu154Lys) SNV
Germline
Chr17:41769426 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565490 rs_782765314

6 SubmittersRCV000522559RCV001212816RCV003380597

NM_002230.4(JUP):c.561C>T (p.Ala187=) SNV
Germline
Chr17:41769115 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA8565446 rs_139552714

5 SubmittersRCV000554351RCV001124848RCV001124849RCV001697304RCV002350307RCV003317270

NM_002230.4(JUP):c.475G>T (p.Val159Leu) SNV
Germline
Chr17:41769201 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565461 rs_782702266

7 SubmittersRCV000542692RCV000996541RCV003479157RCV002330914

NM_002230.4(JUP):c.275G>A (p.Gly92Asp) SNV
Germline
Chr17:41769611 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565526 rs_782737074

3 SubmittersRCV000536647RCV002289763RCV002438426

NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) SNV
Germline
Chr17:41758861 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Left ventricular noncompaction
not specified
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565194 rs_376051686

8 SubmittersRCV000551963RCV000624487RCV003235283RCV001548482RCV002395414

NM_002230.4(JUP):c.1815C>T (p.Ala605=) SNV
Germline
Chr17:41757743 Conflicting classifications of pathogenicity Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565102 rs_543862977

5 SubmittersRCV000590680RCV001124646RCV001124647RCV001463938RCV002413667

NM_002230.4(JUP):c.192G>A (p.Gly64=) SNV
Germline
Chr17:41771663 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565564 rs_141237794

4 SubmittersRCV000587151RCV000645223RCV001124951RCV001124952RCV002413668

NM_002230.4(JUP):c.1920C>T (p.Gly640=) SNV
Germline
Chr17:41757638 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA8565087 rs_376699725

2 SubmittersRCV000600327RCV001209494

NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) SNV
Germline
Chr17:41755803 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA399490403 rs_1285789744

3 SubmittersRCV000645202RCV000618552RCV001584431

NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) SNV
Germline
Chr17:41758792 Conflicting classifications of pathogenicity Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA8565187 rs_782309611

4 SubmittersRCV000619833RCV001049613RCV001121973RCV001127758

NM_002230.4(JUP):c.1236G>A (p.Thr412=) SNV
Germline
Chr17:41763244 Conflicting classifications of pathogenicity Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
CA8565248 rs_376391674

2 SubmittersRCV000619371RCV001860381

NM_002230.4(JUP):c.1715G>A (p.Arg572Gln) SNV
Germline
Chr17:41758457 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565145 rs_397517298

2 SubmittersRCV000645210RCV002397246

NM_002230.4(JUP):c.1262A>G (p.Asn421Ser) SNV
Germline
Chr17:41763218 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565243 rs_782135453

2 SubmittersRCV000645205RCV002449040

NM_002230.4(JUP):c.694G>A (p.Val232Ile) SNV
Germline
Chr17:41768982 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA8565412 rs_137989964

3 SubmittersRCV000645214RCV001124845RCV001124844RCV003303043

NM_002230.4(JUP):c.266T>C (p.Met89Thr) SNV
Germline
Chr17:41769620 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_542745694

5 SubmittersRCV000707335RCV000786330RCV001193378RCV002424726

NM_002230.4(JUP):c.1212C>T (p.Asp404=) SNV
Germline
Chr17:41763268 Conflicting classifications of pathogenicity Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_1482026041

3 SubmittersRCV000769493RCV002067211RCV002352277

NM_002230.4(JUP):c.412G>A (p.Glu138Lys) SNV
Germline
Chr17:41769474 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Conduction disorder of the heart
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_150245906

6 SubmittersRCV000780359RCV001049504RCV001256955RCV001592960RCV002332568

NM_002230.4(JUP):c.1774-8C>T SNV
Germline
Chr17:41757792 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
rs_781837434

2 SubmittersRCV000780358RCV001409649

NM_002230.4(JUP):c.1996G>T (p.Val666Leu) SNV
Germline
Chr17:41757465 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_372369061

2 SubmittersRCV000803183RCV002422746

NM_002230.4(JUP):c.1850C>T (p.Ala617Val) SNV
Germline
Chr17:41757708 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782465804

2 SubmittersRCV000800924RCV002406771

NM_002230.4(JUP):c.1430G>A (p.Arg477His) SNV
Germline
Chr17:41763050 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_781788038

3 SubmittersRCV000802247RCV002388486

NM_002230.4(JUP):c.928G>A (p.Gly310Ser) SNV
Germline
Chr17:41765049 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_1597808505

2 SubmittersRCV000807858RCV002370158

NM_002230.4(JUP):c.682A>G (p.Ile228Val) SNV
Germline
Chr17:41768994 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
rs_374566089

4 SubmittersRCV000821510RCV001759610RCV002363162RCV003235413

NM_002230.4(JUP):c.608G>A (p.Arg203His) SNV
Germline
Chr17:41769068 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_200221163

4 SubmittersRCV000799805RCV001555088RCV002352351

NM_002230.4(JUP):c.1924+1G>A SNV
Germline
Chr17:41757633 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_1597781765

2 SubmittersRCV000794155RCV002406735

NM_002230.4(JUP):c.208+1G>A SNV
Germline
Chr17:41771646 Likely pathogenic Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Single Submitter
rs_373761090

1 SubmittersRCV000821402

NM_002230.4(JUP):c.545C>A (p.Ser182Ter) SNV
Germline
Chr17:41769131 Pathogenic Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Single Submitter
rs_145592971

1 SubmittersRCV001063665

NM_002230.4(JUP):c.88G>A (p.Ala30Thr) SNV
Germline
Chr17:41771767 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782733459

2 SubmittersRCV001044848RCV004031374

NM_002230.4(JUP):c.*1027G>C SNV
Germline
Chr17:41754717 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_147905567

2 SubmittersRCV001123281RCV001123280RCV001785784

NM_002230.4(JUP):c.*853C>T SNV
Germline
Chr17:41754891 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_55919561

2 SubmittersRCV001124385RCV001124386RCV001785785

NM_002230.4(JUP):c.*18C>T SNV
Germline
Chr17:41755726 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
not specified
Criteria Provided
Conflicting Classifications
rs_200222165

2 SubmittersRCV001123475RCV001127587RCV001420779

NM_002230.4(JUP):c.375G>C (p.Ser125=) SNV
Germline
Chr17:41769511 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_111344340

3 SubmittersRCV001122173RCV001122174RCV001396249RCV002348566

NM_002230.4(JUP):c.321G>A (p.Glu107=) SNV
Germline
Chr17:41769565 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
rs_781978743

2 SubmittersRCV001122175RCV001122176RCV002556630

NM_002230.4(JUP):c.-96G>A SNV
Germline
Chr17:41786675 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_552101358

2 SubmittersRCV001128031RCV001128032RCV001712856

NM_002230.4(JUP):c.1619G>A (p.Arg540His) SNV
Germline
Chr17:41758749 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_376881608

3 SubmittersRCV001175006RCV001215662RCV004032982

NM_002230.4(JUP):c.950A>T (p.Gln317Leu) SNV
Germline
Chr17:41765027 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_782509792

4 SubmittersRCV001192708RCV001876249RCV002375118RCV002473214

NM_002230.4(JUP):c.209-8G>A SNV
Germline
Chr17:41769685 Conflicting classifications of pathogenicity not specified
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
JUP-related disorder
Criteria Provided
Conflicting Classifications
rs_1165044090

3 SubmittersRCV001192705RCV001401958RCV003953573

NM_002230.4(JUP):c.2055C>T (p.Ser685=) SNV
Germline
Chr17:41756206 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications
rs_1913708075

2 SubmittersRCV001201754

NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) SNV
Germline
Chr17:41755793 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782261124

3 SubmittersRCV001232198RCV001760237RCV002429990

NM_002230.4(JUP):c.778G>A (p.Ala260Thr) SNV
Germline
Chr17:41767510 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_149623442

3 SubmittersRCV001234975RCV002245894RCV002411871

NM_002230.4(JUP):c.1204G>A (p.Val402Met) SNV
Germline
Chr17:41763276 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782241125

2 SubmittersRCV001294260RCV002350507

NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys) SNV
Germline
Chr17:41756183 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782475413

3 SubmittersRCV001871783RCV004034242

NM_002230.4(JUP):c.1865A>T (p.Asp622Val) SNV
Germline
Chr17:41757693 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_1021325325

3 SubmittersRCV001343507RCV003294354

NM_002230.4(JUP):c.1158+1G>T SNV
Germline
Chr17:41764712 Likely pathogenic Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Single Submitter
rs_2143591648

1 SubmittersRCV001378185

NM_002230.4(JUP):c.705C>T (p.Leu235=) SNV
Germline
Chr17:41768971 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_887639693

2 SubmittersRCV001475141RCV002368454

NM_002230.4(JUP):c.661G>A (p.Ala221Thr) SNV
Germline
Chr17:41769015 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiomyopathy
Criteria Provided
Conflicting Classifications
rs_782076415

5 SubmittersRCV001769095RCV002370293RCV002488591RCV003150457

NM_002230.4(JUP):c.115A>G (p.Ser39Gly) SNV
Germline
Chr17:41771740 Conflicting classifications of pathogenicity Condition: not provided
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782211863

4 SubmittersRCV001771276RCV001868611RCV002370298

NM_002230.4(JUP):c.680G>A (p.Gly227Asp) SNV
Germline
Chr17:41768996 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782010606

2 SubmittersRCV002048993RCV003303675

NM_002230.4(JUP):c.222C>G (p.Tyr74Ter) SNV
Germline
Chr17:41769664 Pathogenic Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Single Submitter
rs_2143697976

1 SubmittersRCV001999850

NM_002230.4(JUP):c.601A>G (p.Thr201Ala) SNV
Germline
Chr17:41769075 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_781999758

2 SubmittersRCV001992473RCV002352632

NM_002230.4(JUP):c.1870G>T (p.Glu624Ter) SNV
Germline
Chr17:41757688 Pathogenic Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Single Submitter
rs_2143426682

1 SubmittersRCV001912788

NM_002230.4(JUP):c.343C>T (p.Arg115Ter) SNV
Germline
Chr17:41769543 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_782203227

2 SubmittersRCV001947032RCV002458886

NM_002230.4(JUP):c.1639C>T (p.Gln547Ter) SNV
Germline
Chr17:41758729 Pathogenic Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Single Submitter
rs_2143456924

1 SubmittersRCV001959080

NM_002230.4(JUP):c.2039G>A (p.Trp680Ter) SNV
Germline
Chr17:41757422 Pathogenic Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Single Submitter
rs_2143416425

1 SubmittersRCV001902132

NM_002230.4(JUP):c.1725G>T (p.Met575Ile) SNV
Germline
Chr17:41758447 Conflicting classifications of pathogenicity Cardiovascular phenotype
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002399117RCV003097180

NM_002230.4(JUP):c.197C>T (p.Pro66Leu) SNV
Germline
Chr17:41771658 Conflicting classifications of pathogenicity Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002913058RCV003308325

NM_002230.4(JUP):c.2215A>G (p.Thr739Ala) SNV
Germline
Chr17:41755767 Conflicting classifications of pathogenicity Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003181547RCV003778966

NM_002230.4(JUP):c.873C>A (p.Cys291Ter) SNV
Germline
Chr17:41767415 Pathogenic Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Criteria Provided
Single Submitter

1 SubmittersRCV003787234

NM_002230.4(JUP):c.1654-2A>G SNV
Germline
Chr17:41758520 Likely pathogenic Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Single Submitter

1 SubmittersRCV003802076

NM_002230.4(JUP):c.1121G>A (p.Trp374Ter) SNV
Germline
Chr17:41764750 Pathogenic Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Criteria Provided
Single Submitter

1 SubmittersRCV003810264

NM_002230.4(JUP):c.1408G>T (p.Glu470Ter) SNV
Germline
Chr17:41763072 Likely pathogenic Naxos disease Criteria Provided
Single Submitter

1 SubmittersRCV004018072