JUP (Junction plakoglobin) variants and mutations
JUP (also known as Junction plakoglobin) is a human protein-coding gene encoding a junction plakoglobin protein. It links desmosomal and adherens-junction cadherins to the cytoskeleton and helps maintain mechanical coupling between cardiomyocytes and epithelial cells. Pathogenic variants can cause arrhythmogenic cardiomyopathy and cardiocutaneous syndromes such as Naxos disease. This analysis covers 1,314 JUP variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes Naxos disease, arrhythmogenic right ventricular dysplasia 12, and Arrhythmogenic right ventricular dysplasia. Example JUP variants include E2D, E2G, and M4I.
Variant analysis overview
- Gene: JUP
- Protein: Junction plakoglobin
- UniProt accession: P14923
- Organism: Homo sapiens
- Variants analyzed: 1314
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,146 unspecified-consequence records; 74 synonymous variants; 66 missense variants; 3 stop-gained variants; 13 frameshift variants; 3 in-frame deletions; 1 in-frame insertions; 5 splice-region variants; 3 substitution
- Prediction scores: 980 variants have prediction scores (75% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Naxos disease, arrhythmogenic right ventricular dysplasia 12, Arrhythmogenic right ventricular dysplasia, lethal acantholytic epidermolysis bullosa, familial isolated arrhythmogenic ventricular dysplasia, left dominant form, wooly hair-palmoplantar keratoderma syndrome, familial isolated arrhythmogenic ventricular dysplasia, biventricular form, familial isolated arrhythmogenic ventricular dysplasia, right dominant form, dilated cardiomyopathy, cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, Wolff-Parkinson-White syndrome.
Protein structure and variant hotspots
- Protein features: 7 post-translational modification sites.
- PTM context: 14 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable JUP variants
Examples include E2D, E2G, M4I, M4V, M7I, M7T, Q9*, Q9E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2D (p.Glu2Asp), ExAC rs782145510, gnomAD rs782145510, REVEL 0.04, CADD 15.70
- E2G (p.Glu2Gly), Ensembl rs112065669
- M4I (p.Met4Ile), rs782032550, ExAC rs782032550, gnomAD rs782032550, REVEL 0.06, CADD 17.70, Variant assessed as somatic; moderate impact.
- M4V (p.Met4Val), cosmic curated COSV60280
- M7I (p.Met7Ile), rs782076076, ClinGen CA399507335, ClinVar RCV001241769, ExAC rs782076076, REVEL 0.03, CADD 0.01, Uncertain significance, not provided; Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- M7T (p.Met7Thr), ESP rs377013218, ExAC rs377013218, gnomAD rs377013218
- Q9* (p.Gln9Ter), gnomAD rs1555607148
- Q9E (p.Gln9Glu), rs1555607148, ClinGen CA399507315, ClinVar RCV003803622, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- P10H (p.Pro10His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P10L (p.Pro10Leu), cosmic curated COSV10812
- P10T (p.Pro10Thr), cosmic curated COSV10812
- I11V (p.Ile11Val), ExAC rs782310972, gnomAD rs782310972, REVEL 0.07, CADD 16.60
- K12N (p.Lys12Asn), rs2544217465, ClinGen CA399507264, ClinVar RCV004513428, ClinVar RCV006564822, REVEL 0.09, CADD 22.50, Uncertain significance, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- K12R (p.Lys12Arg), rs1555607135, ClinGen CA399507268, ClinVar RCV002610183, Ensembl rs1555607135, AlphaMissense 0.11, MetaLR 0.18, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- V13A (p.Val13Ala), cosmic curated COSV60280
- V13G (p.Val13Gly), NCI-TCGA Cosmic COSV6028, Variant assessed as somatic; moderate impact.
- V13M (p.Val13Met), Ensembl rs2143738042, REVEL 0.14, CADD 26.20
- T14I (p.Thr14Ile), ExAC rs782013417, gnomAD rs782013417
- T14P (p.Thr14Pro), ExAC rs782199573, gnomAD rs782199573
- E15K (p.Glu15Lys), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, Variant assessed as somatic; moderate impact.
- E15V (p.Glu15Val), TOPMed rs1916699324
- W16R (p.Trp16Arg), TOPMed rs1231029909, gnomAD rs1231029909, REVEL 0.51, CADD 29.20
- Q17* (p.Gln17Ter), ExAC rs782409726, gnomAD rs782409726, AlphaMissense 0.39, MetaLR 0.19, Uncertain significance
- Q17K (p.Gln17Lys), rs782409726, ClinGen CA399507207, ClinVar RCV002303692, ExAC rs782409726, AlphaMissense 0.39, MetaLR 0.19, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Q18* (p.Gln18Ter), ExAC rs782485736, gnomAD rs782485736
- Q18E (p.Gln18Glu), ExAC rs782485736, gnomAD rs782485736, REVEL 0.12, CADD 21.90
- Q18H (p.Gln18His), rs2544217141, ClinGen CA399507185, ClinVar RCV002351651, ClinVar RCV003776119, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- T19A (p.Thr19Ala), rs1555607105, ClinGen CA399507179, ClinVar RCV003442364, ClinVar RCV003778480, REVEL 0.09, CADD 22.30, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- T19I (p.Thr19Ile), rs570878629, ClinGen CA185075, cosmic curated COSV10015, ClinVar RCV000156554, REVEL 0.20, CADD 24.80, Conflicting interpretations, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- T21P (p.Thr21Pro), Ensembl rs1597835302
- D23E (p.Asp23Glu), rs2544216840, ClinGen CA399507118, ClinVar RCV002364737, Uncertain significance, Cardiovascular phenotype
- D23N (p.Asp23Asn), rs2544216859, ClinGen CA399507129, ClinVar RCV003380176, ClinVar RCV003778132, REVEL 0.36, CADD 26.80, Uncertain significance, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- S24* (p.Ser24Ter), rs782460555, ClinGen CA212715, ClinVar RCV000194470, ExAC rs782460555, AlphaMissense 0.96, MetaLR 0.27, Pathogenic
- S24L (p.Ser24Leu), rs782460555, ClinGen CA308436, cosmic curated COSV60278, ClinVar RCV000183480, REVEL 0.52, AlphaMissense 0.96, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not provided
- S24W (p.Ser24Trp), NCI-TCGA Cosmic COSV6027, Variant assessed as somatic; moderate impact.
- G25S (p.Gly25Ser), rs2544216733, ClinGen CA399507106, ClinVar RCV002380519, REVEL 0.52, CADD 25.80, Uncertain significance, Cardiovascular phenotype
- G25V (p.Gly25Val), ExAC rs781892715, gnomAD rs781892715
- I26L (p.Ile26Leu), rs2544216640, ClinGen CA399507099, ClinVar RCV003028873, REVEL 0.29, CADD 25.60, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- I26M (p.Ile26Met), rs2544216620, ClinGen CA399507088, ClinVar RCV003181554, ClinVar RCV005227922, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- H27Y (p.His27Tyr), cosmic curated COSV10512, REVEL 0.21, CADD 24.90
- S28L (p.Ser28Leu), rs782713414, ClinGen CA290701403, cosmic curated COSV60277, ClinVar RCV001919493, REVEL 0.54, CADD 27.30, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- G29S (p.Gly29Ser), rs782501542, NCI-TCGA Cosmic COSV6027, cosmic curated COSV60279, ExAC rs782501542, REVEL 0.41, CADD 24.00, Variant assessed as somatic; moderate impact.
- A30T (p.Ala30Thr), rs782733459, ClinGen CA8565586, cosmic curated COSV60277, ClinVar RCV001044848, REVEL 0.04, CADD 17.30, Conflicting interpretations, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- A30V (p.Ala30Val), Ensembl rs1555607062
- N31K (p.Asn31Lys), cosmic curated COSV60279
- T32I (p.Thr32Ile), rs1916685977, ClinGen CA399507021, ClinVar RCV002374351, TOPMed rs1916685977, REVEL 0.55, CADD 25.40, Uncertain significance, Cardiovascular phenotype
- C33F (p.Cys33Phe), rs2544216232, ClinGen CA399507009, ClinVar RCV003802373, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- C33R (p.Cys33Arg), TOPMed rs1171511931, gnomAD rs1171511931, REVEL 0.05, CADD 18.10
- V34M (p.Val34Met), rs794729029, ClinGen CA308441, ClinVar RCV001125928, ClinVar RCV001125929, REVEL 0.06, CADD 20.20, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- P35L (p.Pro35Leu), cosmic curated COSV60279
- P35T (p.Pro35Thr), ExAC rs782787073, gnomAD rs782787073, REVEL 0.32, CADD 22.90, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- S36F (p.Ser36Phe), rs1555607036, ClinGen CA399506974, NCI-TCGA Cosmic COSV6027, cosmic curated COSV60279, REVEL 0.45, CADD 25.50, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- V37I (p.Val37Ile), rs150769772, ClinGen CA8565582, ClinVar RCV001038226, ClinVar RCV001759732, REVEL 0.02, CADD 9.35, Uncertain significance, Cardiovascular phenotype; not provided; Naxos disease
- S38G (p.Ser38Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S38N (p.Ser38Asn), NCI-TCGA Cosmic COSV6028, cosmic curated COSV60280, Variant assessed as somatic; moderate impact.
- S38R (p.Ser38Arg), rs782391511, ClinGen CA8565581, ClinVar RCV001984865, ExAC rs782391511, REVEL 0.09, CADD 21.90, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- S39G (p.Ser39Gly), rs782211863, ClinGen CA8565580, ClinVar RCV001771276, ClinVar RCV001868611, REVEL 0.06, CADD 19.60, Conflicting interpretations, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- S39N (p.Ser39Asn), gnomAD rs1555607010, REVEL 0.09, CADD 21.60
- K40R (p.Lys40Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G41A (p.Gly41Ala), Ensembl rs2143735580
- G41D (p.Gly41Asp), rs2143735580, ClinGen CA399506911, ClinVar RCV003080889, ClinVar RCV003883880, REVEL 0.26, CADD 17.60, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- G41S (p.Gly41Ser), rs2544215834, ClinGen CA399506914, ClinVar RCV003791019, NCI-TCGA TCGA novel, REVEL 0.11, CADD 20.60, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- I42N (p.Ile42Asn), ExAC rs781972746, gnomAD rs781972746
- M43I (p.Met43Ile), rs1555606996, ClinGen CA399506883, cosmic curated COSV99066, ClinVar RCV001368590, REVEL 0.04, CADD 14.90, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- M43K (p.Met43Lys), TOPMed rs1916678120, gnomAD rs1916678120, REVEL 0.11, CADD 17.80
- M43T (p.Met43Thr), TOPMed rs1916678120, gnomAD rs1916678120, REVEL 0.08, CADD 16.20
- M43V (p.Met43Val), rs1916678676, ClinGen CA399506893, ClinVar RCV001204457, Ensembl rs1916678676, REVEL 0.03, CADD 13.80, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- E45D (p.Glu45Asp), rs2143735253, ClinGen CA399506850, ClinVar RCV001364755, ClinVar RCV005582736, AlphaMissense 0.05, MetaLR 0.04, Conflicting interpretations, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- E45K (p.Glu45Lys), rs1916677301, ClinGen CA399506861, ClinVar RCV003790069, gnomAD rs1916677301, REVEL 0.11, CADD 22.40, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- D46N (p.Asp46Asn), rs782308879, ClinGen CA8565577, ClinVar RCV000817995, ExAC rs782308879, REVEL 0.12, CADD 21.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- D46Y (p.Asp46Tyr), rs782308879, ClinGen CA399506845, cosmic curated COSV10015, ClinVar RCV002644063, REVEL 0.21, CADD 24.60, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- E47D (p.Glu47Asp), rs2143735148, ClinGen CA399506823, ClinVar RCV001786849, ClinVar RCV005652707, REVEL 0.04, CADD 0.02, Uncertain significance, Cardiovascular phenotype; not provided
- E47K (p.Glu47Lys), NCI-TCGA Cosmic COSV6027, cosmic curated COSV60278, Variant assessed as somatic; moderate impact.
- A48D (p.Ala48Asp), rs2143735114, ClinGen CA399506814, ClinVar RCV001981758, Ensembl rs2143735114, REVEL 0.16, CADD 13.90, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- A48P (p.Ala48Pro), rs2544215439, ClinGen CA399506819, ClinVar RCV003033585, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- C49R (p.Cys49Arg), Ensembl rs1555606992
- C49Y (p.Cys49Tyr), ExAC rs782199757, gnomAD rs782199757, REVEL 0.18, CADD 13.40
- G50R (p.Gly50Arg), rs374008304, ClinGen CA8565574, cosmic curated COSV60278, ClinVar RCV000822515, REVEL 0.11, CADD 14.50, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- R51C (p.Arg51Cys), rs782254006, ClinGen CA8565573, cosmic curated COSV60279, ClinVar RCV001170587, REVEL 0.24, CADD 22.20, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiomyopathy
- R51H (p.Arg51His), rs571707598, ClinGen CA8565572, ClinVar RCV001034968, ClinVar RCV005648074, REVEL 0.12, CADD 21.00, Uncertain significance, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- R51L (p.Arg51Leu), rs571707598, ClinGen CA399506777, ClinVar RCV003181553, ClinVar RCV006269817, REVEL 0.19, CADD 19.70, Uncertain significance, not specified; Cardiovascular phenotype
- Q52K (p.Gln52Lys), rs2544215179, ClinGen CA399506775, ClinVar RCV003802996, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- T54A (p.Thr54Ala), rs781784933, ClinGen CA8565570, ClinVar RCV002013940, ClinVar RCV005361919, REVEL 0.07, CADD 20.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- T54K (p.Thr54Lys), ExAC rs782529328, TOPMed rs782529328, gnomAD rs782529328, REVEL 0.16, CADD 19.00, Uncertain significance
- T54M (p.Thr54Met), rs782529328, ClinGen CA8565569, ClinVar RCV000414243, ClinVar RCV001124953, REVEL 0.11, CADD 19.40, Uncertain significance, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- L55F (p.Leu55Phe), rs1555606954, gnomAD rs1555606954, REVEL 0.07, CADD 11.20, Variant assessed as somatic; moderate impact.
- K56E (p.Lys56Glu), ExAC rs782760671, gnomAD rs782760671, REVEL 0.15, CADD 19.90
- T58P (p.Thr58Pro), Ensembl rs1597834737
- T59A (p.Thr59Ala), Ensembl rs1916670138
- T59N (p.Thr59Asn), TOPMed rs1466198019, REVEL 0.05, CADD 19.40
- T60A (p.Thr60Ala), Ensembl rs1191599045, Uncertain significance, Cardiovascular phenotype
- T62N (p.Thr62Asn), rs1555606943, ClinGen CA399506629, ClinVar RCV001245893, gnomAD rs1555606943, REVEL 0.06, CADD 17.40, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- T62P (p.Thr62Pro), Ensembl rs1597834690
- T62S (p.Thr62Ser), rs1555606943, ClinGen CA399506634, ClinVar RCV002414889, gnomAD rs1555606943, REVEL 0.10, CADD 15.80, Uncertain significance, Cardiovascular phenotype
- Q63H (p.Gln63His), NCI-TCGA Cosmic COSV6027, Variant assessed as somatic; moderate impact.
- Q63R (p.Gln63Arg), rs2544214580, ClinGen CA399506615, ClinVar RCV003791708, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- G64A (p.Gly64Ala), NCI-TCGA Cosmic COSV6027, cosmic curated COSV60279, Variant assessed as somatic; moderate impact.
- G64R (p.Gly64Arg), gnomAD rs1555606934, REVEL 0.17, CADD 20.50
- V65C (p.Val65Cys), NCI-TCGA Cosmic COSV1001, NCI-TCGA Cosmic COSV6027, Variant assessed as somatic; high impact.
- V65E (p.Val65Glu), TOPMed rs1252314084, REVEL 0.28, CADD 14.40
- V65L (p.Val65Leu), rs727503100, NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, NCI-TCGA Cosmic COSV6027, REVEL 0.07, CADD 13.20, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not specified
- V65M (p.Val65Met), rs727503100, ClinGen CA399506588, cosmic curated COSV60277, ClinVar RCV000817258, REVEL 0.06, CADD 16.10, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- P66L (p.Pro66Leu), rs542144750, ClinGen CA8565563, cosmic curated COSV60277, ClinVar RCV002913058, REVEL 0.07, CADD 22.00, Conflicting interpretations, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- P66S (p.Pro66Ser), rs1555606922, ClinGen CA399506570, ClinVar RCV003084328, ClinVar RCV004992497, REVEL 0.04, CADD 17.20, Conflicting interpretations, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- P67L (p.Pro67Leu), rs1427489722, ClinGen CA399506547, ClinVar RCV000801534, gnomAD rs1427489722, REVEL 0.13, CADD 19.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- P67S (p.Pro67Ser), cosmic curated COSV60277, REVEL 0.11, CADD 21.00
- S68A (p.Ser68Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S68N (p.Ser68Asn), rs1555606905, ClinGen CA399506537, ClinVar RCV003181549, ClinVar RCV005227920, REVEL 0.03, CADD 8.17, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- G70A (p.Gly70Ala), rs794729030, ClinGen CA308446, ClinVar RCV000183482, Ensembl rs794729030, REVEL 0.05, CADD 22.50, Uncertain significance, not provided
- G70D (p.Gly70Asp), cosmic curated COSV10512, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- D71E (p.Asp71Glu), 1000Genomes rs7405731, ESP rs7405731, ExAC rs7405731, TOPMed rs7405731, REVEL 0.03, CADD 18.00, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- D71Y (p.Asp71Tyr), rs2544194811, ClinGen CA2580093935, ClinVar RCV002417468, REVEL 0.26, CADD 24.60, Uncertain significance, Cardiovascular phenotype
- E73* (p.Glu73Ter), cosmic curated COSV10015, CADD 45.00
- E73A (p.Glu73Ala), ExAC rs781793571, gnomAD rs781793571, REVEL 0.11, CADD 23.20
- E73K (p.Glu73Lys), gnomAD rs1555605984, REVEL 0.08, CADD 22.50
- Y74* (p.Tyr74Ter), rs2143697976, ClinGen CA399506103, ClinVar RCV001999850, Ensembl rs2143697976, CADD 39.00, Pathogenic
- M76I (p.Met76Ile), rs202091411, ClinGen CA8565544, ClinVar RCV001923502, ClinVar RCV004043556, REVEL 0.04, CADD 18.40, Conflicting interpretations, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- M76L (p.Met76Leu), ExAC rs782730235, gnomAD rs782730235, REVEL 0.12, CADD 18.50, Uncertain significance
- M76R (p.Met76Arg), rs782144363, ClinVar RCV004991902, ClinVar RCV006565708, ExAC rs782144363, REVEL 0.07, CADD 22.80, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- M76V (p.Met76Val), rs782730235, ClinGen CA399506051, ClinVar RCV001216371, ExAC rs782730235, REVEL 0.09, CADD 21.80, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- S77F (p.Ser77Phe), rs782771565, ClinGen CA8565543, ClinVar RCV003152171, ClinVar RCV003778910, REVEL 0.09, CADD 23.10, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not provided
- S77P (p.Ser77Pro), rs2544194465, ClinGen CA399506034, ClinVar RCV004513427, ClinVar RCV006564821, REVEL 0.15, CADD 23.00, Uncertain significance, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- S77Y (p.Ser77Tyr), ExAC rs782771565, gnomAD rs782771565, REVEL 0.11, CADD 22.90, Uncertain significance
- T78A (p.Thr78Ala), rs1916308035, ClinGen CA399506016, ClinVar RCV001060226, TOPMed rs1916308035, REVEL 0.15, CADD 19.30, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- A80T (p.Ala80Thr), rs575015278, ClinGen CA290700938, ClinVar RCV002932907, ClinVar RCV004067049, REVEL 0.09, CADD 19.50, Uncertain significance, not specified; Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- A82S (p.Ala82Ser), TOPMed rs1555605963, gnomAD rs1555605963, REVEL 0.13, CADD 17.70
- A82T (p.Ala82Thr), TOPMed rs1555605963, gnomAD rs1555605963, REVEL 0.10, CADD 22.40, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- A82V (p.Ala82Val), cosmic curated COSV10812, REVEL 0.26, CADD 29.00
- K83R (p.Lys83Arg), rs781953833, ClinGen CA8565541, ClinVar RCV002994569, ClinVar RCV004779394, REVEL 0.12, CADD 24.10, Uncertain significance, not provided; Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- R84G (p.Arg84Gly), rs782306414, ClinGen CA399505898, ClinVar RCV001909161, ClinVar RCV003167082, REVEL 0.31, CADD 26.60, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- R84Q (p.Arg84Gln), rs782061304, ClinGen CA8565539, NCI-TCGA Cosmic COSV6027, cosmic curated COSV60278, REVEL 0.26, CADD 27.80, Conflicting interpretations, Cardiovascular phenotype; not provided; Naxos disease
- R84W (p.Arg84Trp), rs782306414, ClinGen CA8565540, ClinVar RCV001340193, ClinVar RCV003416231, REVEL 0.47, CADD 27.90, Uncertain significance, JUP-related disorder; Arrhythmogenic right ventricular dysplasia 12; Naxos disea
- V85L (p.Val85Leu), rs782425952, ClinGen CA8565537, ClinVar RCV000528761, ExAC rs782425952, REVEL 0.10, CADD 22.00, Uncertain significance, Cardiovascular phenotype
- V85M (p.Val85Met), ExAC rs782425952, TOPMed rs782425952, gnomAD rs782425952, REVEL 0.18, CADD 25.30, Uncertain significance, Cardiovascular phenotype
- R86P (p.Arg86Pro), cosmic curated COSV10883, ExAC rs782341732, TOPMed rs782341732, gnomAD rs782341732, REVEL 0.64, CADD 28.00, Uncertain significance
- R86Q (p.Arg86Gln), rs782341732, ClinGen CA8565535, NCI-TCGA Cosmic COSV6027, cosmic curated COSV60278, REVEL 0.33, CADD 27.70, Conflicting interpretations, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- R86W (p.Arg86Trp), rs782240305, ClinGen CA8565536, NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, REVEL 0.52, CADD 32.00, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- E87K (p.Glu87Lys), gnomAD rs1555605943
- A88D (p.Ala88Asp), ESP rs137891946, ExAC rs137891946, TOPMed rs137891946, gnomAD rs137891946, REVEL 0.65, CADD 28.40, Uncertain significance, Cardiovascular phenotype
- A88G (p.Ala88Gly), ESP rs137891946, ExAC rs137891946, TOPMed rs137891946, gnomAD rs137891946, REVEL 0.32, CADD 25.20, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- A88N (p.Ala88Asn), rs1916297521, ClinGen CA916081885, ClinVar RCV001070361, ClinVar RCV004761925, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- A88T (p.Ala88Thr), ESP rs143434512, ExAC rs143434512, TOPMed rs143434512, gnomAD rs143434512, REVEL 0.23, CADD 24.30, Uncertain significance, Cardiovascular phenotype
- M89K (p.Met89Lys), rs542745694, ClinGen CA399505773, ClinVar RCV003808038, AlphaMissense 0.63, MetaLR 0.25, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- M89T (p.Met89Thr), rs542745694, ClinGen CA8565528, ClinVar RCV000707335, ClinVar RCV000786330, REVEL 0.56, AlphaMissense 0.63, Conflicting interpretations, Cardiovascular phenotype; not provided; not specified
- C90F (p.Cys90Phe), rs2544193735, ClinGen CA399505757, ClinVar RCV003028961, REVEL 0.19, CADD 16.90, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- P91L (p.Pro91Leu), rs1567819889, ClinGen CA399505734, cosmic curated COSV10812, ClinVar RCV002020750, REVEL 0.22, CADD 22.60, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- G92A (p.Gly92Ala), ExAC rs782737074, TOPMed rs782737074, gnomAD rs782737074, REVEL 0.15, CADD 18.90, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- G92C (p.Gly92Cys), rs781875765, ClinGen CA8565527, ClinVar RCV000524047, ClinVar RCV000617807, REVEL 0.24, CADD 25.10, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- G92D (p.Gly92Asp), rs782737074, ClinGen CA8565526, ClinVar RCV000536647, ClinVar RCV002289763, REVEL 0.24, CADD 19.10, Conflicting interpretations, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- V93A (p.Val93Ala), TOPMed rs1916292032, REVEL 0.10, AlphaMissense 0.09, Uncertain significance
- V93G (p.Val93Gly), rs1916292032, ClinGen CA399505692, ClinVar RCV002007111, TOPMed rs1916292032, AlphaMissense 0.09, MetaLR 0.13, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- V93M (p.Val93Met), gnomAD rs1555605915, REVEL 0.11, CADD 13.50
- S94L (p.Ser94Leu), gnomAD rs1555605907
- E96* (p.Glu96Ter), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, CADD 38.00, Variant assessed as somatic; high impact.
- E96K (p.Glu96Lys), rs191683892, ClinGen CA308451, ClinVar RCV000183483, ClinVar RCV001047557, REVEL 0.25, CADD 24.80, Uncertain significance, Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- D97E (p.Asp97Glu), Ensembl rs901211707, REVEL 0.06, CADD 3.45
- D97G (p.Asp97Gly), ExAC rs781802118, gnomAD rs781802118
- D97H (p.Asp97His), rs2143696352, ClinGen CA399505632, ClinVar RCV001988844, Ensembl rs2143696352, AlphaMissense 0.23, MetaLR 0.15, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- D97N (p.Asp97Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D97V (p.Asp97Val), ExAC rs781802118, gnomAD rs781802118, REVEL 0.22, CADD 22.50
- S98G (p.Ser98Gly), rs2544193383, ClinGen CA399505616, ClinVar RCV002295248, REVEL 0.10, CADD 17.50, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- S98N (p.Ser98Asn), rs1555605891, ClinGen CA399505612, cosmic curated COSV10015, ClinVar RCV000811440, REVEL 0.05, CADD 17.50, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- S99L (p.Ser99Leu), rs554046226, ClinGen CA8565524, ClinVar RCV001363544, ClinVar RCV005648136, REVEL 0.10, CADD 17.90, Conflicting interpretations, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- L100F (p.Leu100Phe), rs1555605883, ClinGen CA399505585, ClinVar RCV000549429, TOPMed rs1555605883, AlphaMissense 0.07, MetaLR 0.19, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- A103G (p.Ala103Gly), rs2143695852, ClinGen CA399505537, ClinVar RCV001890782, Ensembl rs2143695852, AlphaMissense 0.09, MetaLR 0.13, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- A103T (p.Ala103Thr), cosmic curated COSV60279
- T104N (p.Thr104Asn), rs1185864978, ClinGen CA399505530, ClinVar RCV001237766, ClinVar RCV006347573, REVEL 0.28, AlphaMissense 0.12, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- T104P (p.Thr104Pro), Ensembl rs1597826845
- T104S (p.Thr104Ser), rs1185864978, ClinGen CA399505528, ClinVar RCV002289396, AlphaMissense 0.12, MetaLR 0.20, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12
- Q105* (p.Gln105Ter), cosmic curated COSV10512
- Q105H (p.Gln105His), rs375489362, ClinGen CA290700901, ClinVar RCV002040836, ESP rs375489362, REVEL 0.20, CADD 18.70, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Q105R (p.Gln105Arg), gnomAD rs1555605868, REVEL 0.26, CADD 22.70, Uncertain significance, Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- V106G (p.Val106Gly), Ensembl rs1916279824, REVEL 0.17, CADD 21.70
- V106L (p.Val106Leu), Ensembl rs1916280446, REVEL 0.03, CADD 14.10
- E107D (p.Glu107Asp), NCI-TCGA Cosmic COSV6027, NCI-TCGA Cosmic COSV6028, cosmic curated COSV60280, REVEL 0.10, CADD 0.19, Variant assessed as somatic; moderate impact.
- E107G (p.Glu107Gly), gnomAD rs1555605850, REVEL 0.20, CADD 25.10, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- E107K (p.Glu107Lys), TOPMed rs1168143267, gnomAD rs1168143267, REVEL 0.15, CADD 23.00
- A110G (p.Ala110Gly), cosmic curated COSV60278
- A110S (p.Ala110Ser), rs1916275770, ClinGen CA399505428, ClinVar RCV003301371, TOPMed rs1916275770, REVEL 0.07, AlphaMissense 0.07, Uncertain significance, Cardiovascular phenotype
- A110T (p.Ala110Thr), rs1916275770, ClinGen CA399505426, ClinVar RCV002025225, TOPMed rs1916275770, AlphaMissense 0.07, MetaLR 0.09, Uncertain significance, Arrhythmogenic right ventricular dysplasia 12; Naxos disease
Public JUP analysis runs
- JUP analysis run — JUP (1,314 variants) — completed 2026-08-19