JPH2 (Junctophilin-2) variants and mutations
JPH2 (also known as Junctophilin-2) is a human protein-coding gene encoding a junctophilin-2 protein. It anchors the sarcoplasmic reticulum close to transverse tubules, creating junctional membrane domains required for tightly coupled calcium entry and calcium release in heart muscle. Pathogenic variants can disrupt excitation-contraction coupling and cause hypertrophic or dilated cardiomyopathy and inherited arrhythmia phenotypes. This analysis covers 1,526 JPH2 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy 17, hypertrophic cardiomyopathy, and dilated cardiomyopathy. Example JPH2 variants include S2C, S2G, and S2N.
Variant analysis overview
- Gene: JPH2
- Protein: Junctophilin-2
- UniProt accession: Q9BR39
- Organism: Homo sapiens
- Variants analyzed: 1526
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 1,129 unspecified-consequence records; 2 stop lost; 1 stop retained variant; 133 synonymous variants; 223 missense variants; 15 frameshift variants; 1 splice-region variants; 7 in-frame deletions; 17 stop-gained variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 1,325 variants have prediction scores (87% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy 17, hypertrophic cardiomyopathy, dilated cardiomyopathy, hypertensive disorder, essential hypertension, atrial fibrillation, Abnormality of the skeletal system, type 2 diabetes mellitus, familial isolated dilated cardiomyopathy, cardiomyopathy, Increased blood pressure, cardiovascular disorder.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 12 post-translational modification sites.
- Structural context: 75 variants have structural context.
- PTM context: 20 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, ClinGen, MaveDB, LitVar.
Notable JPH2 variants
Examples include S2C, S2G, S2N, S2R, S2T, G3E, G3R, R5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2C (p.Ser2Cys), gnomAD rs1226782336
- S2G (p.Ser2Gly), gnomAD rs1226782336, REVEL 0.20, CADD 27.90
- S2N (p.Ser2Asn), rs771997292, ClinGen CA409095744, ClinVar RCV002895276, REVEL 0.09, CADD 23.80, Uncertain significance, Hypertrophic cardiomyopathy
- S2R (p.Ser2Arg), Ensembl rs1178855099, REVEL 0.25, CADD 23.40
- S2T (p.Ser2Thr), ExAC rs771997292, gnomAD rs771997292, REVEL 0.11, CADD 21.00
- G3E (p.Gly3Glu), rs746138065, ClinGen CA9868939, ClinVar RCV000788956, ClinVar RCV002370061, REVEL 0.35, CADD 27.90, Uncertain significance, JPH2-related disorder; Cardiovascular phenotype; not provided
- G3R (p.Gly3Arg), gnomAD rs1292510248, REVEL 0.28, CADD 28.70
- R5C (p.Arg5Cys), ExAC rs770777409, TOPMed rs770777409, gnomAD rs770777409, REVEL 0.39, CADD 32.00, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- R5H (p.Arg5His), rs1569226748, NCI-TCGA Cosmic COSV6069, cosmic curated COSV60696, Ensembl rs1569226748, AlphaMissense 0.91, MetaLR 0.53, Uncertain significance, Cardiovascular phenotype
- D7N (p.Asp7Asn), cosmic curated COSV10590, Ensembl rs1600483312
- F8S (p.Phe8Ser), rs2072848592, ClinGen CA409095704, ClinVar RCV001763626, ClinVar RCV003163878, REVEL 0.50, CADD 32.00, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype; not provided
- D9N (p.Asp9Asn), gnomAD rs1440864056, REVEL 0.25, CADD 29.50
- D10E (p.Asp10Glu), ExAC rs749155813, TOPMed rs749155813, gnomAD rs749155813, REVEL 0.46, CADD 24.40, Likely benign
- G11E (p.Gly11Glu), NCI-TCGA Cosmic COSV6069, cosmic curated COSV60696, Variant assessed as somatic; moderate impact.
- G11R (p.Gly11Arg), TOPMed rs2072848476
- G12E (p.Gly12Glu), rs2515765003, ClinGen CA409095676, ClinVar RCV003325442, Uncertain significance, Cardiomyopathy, dilated, 2E
- G12R (p.Gly12Arg), ExAC rs777704623, gnomAD rs777704623, REVEL 0.40, CADD 28.90
- A13S (p.Ala13Ser), TOPMed rs1398543222, gnomAD rs1398543222, REVEL 0.21, CADD 22.30
- A13T (p.Ala13Thr), TOPMed rs1398543222, gnomAD rs1398543222, REVEL 0.15, CADD 22.30, Uncertain significance, Cardiovascular phenotype
- A13V (p.Ala13Val), TOPMed rs1403299005, gnomAD rs1403299005, REVEL 0.30, CADD 29.90, Uncertain significance, Hypertrophic cardiomyopathy
- C15G (p.Cys15Gly), gnomAD rs1442249554, REVEL 0.44, CADD 31.00
- C15W (p.Cys15Trp), ExAC rs748073251, gnomAD rs748073251, REVEL 0.42, CADD 21.30, Likely benign
- G16R (p.Gly16Arg), NCI-TCGA TCGA novel, REVEL 0.95, CADD 28.90, Variant assessed as somatic; moderate impact.
- G17A (p.Gly17Ala), gnomAD rs1250267129, REVEL 0.31, CADD 26.50
- G17C (p.Gly17Cys), NCI-TCGA Cosmic COSV6069, cosmic curated COSV60696, Variant assessed as somatic; moderate impact.
- G17D (p.Gly17Asp), gnomAD rs1250267129, REVEL 0.39, CADD 24.90
- G17V (p.Gly17Val), rs1250267129, ClinGen CA409095642, ClinVar RCV002335992, REVEL 0.47, CADD 27.10, Uncertain significance, Cardiovascular phenotype
- W18G (p.Trp18Gly), gnomAD rs1488866517, REVEL 0.80, CADD 32.00, Uncertain significance
- W18L (p.Trp18Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, REVEL 0.66, CADD 29.50, Variant assessed as somatic; moderate impact.
- W18R (p.Trp18Arg), rs1488866517, ClinGen CA409095639, ClinVar RCV003306451, gnomAD rs1488866517, REVEL 0.82, CADD 32.00, Uncertain significance, Cardiovascular phenotype
- E19D (p.Glu19Asp), rs143695964, ClinGen CA315352315, ClinVar RCV002359874, ClinVar RCV003096878, REVEL 0.08, CADD 23.60, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Hypertrophic cardiomyo
- E19G (p.Glu19Gly), gnomAD rs1248579506, REVEL 0.28, CADD 28.80
- E19K (p.Glu19Lys), TOPMed rs1280974898, gnomAD rs1280974898, REVEL 0.13, CADD 27.90
- E19V (p.Glu19Val), cosmic curated COSV60696, gnomAD rs1248579506, REVEL 0.24, CADD 27.90
- G20R (p.Gly20Arg), rs988100071, ClinGen CA409095623, ClinVar RCV000622465, ClinVar RCV005091798, REVEL 0.13, CADD 26.50, Uncertain significance, Cardiovascular phenotype
- G20V (p.Gly20Val), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Uncertain significance, Cardiovascular phenotype
- G20W (p.Gly20Trp), rs988100071, ClinGen CA409095622, ClinVar RCV003368359, REVEL 0.28, CADD 28.10, Uncertain significance, Cardiovascular phenotype
- G21* (p.Gly21Ter), gnomAD rs1268927282, CADD 38.00
- G21E (p.Gly21Glu), rs2072847837, ClinGen CA409095615, ClinVar RCV001337346, Ensembl rs2072847837, REVEL 0.79, CADD 27.40, Uncertain significance, Hypertrophic cardiomyopathy
- K22R (p.Lys22Arg), gnomAD rs1228789802, REVEL 0.31, CADD 29.20
- A23T (p.Ala23Thr), rs2515764845, ClinGen CA409095603, ClinVar RCV003306454, ClinVar RCV004017978, Uncertain significance, not provided; Cardiovascular phenotype
- A23V (p.Ala23Val), rs780867789, ClinGen CA9868932, ClinVar RCV002378053, ClinVar RCV004763390, REVEL 0.47, CADD 30.00, Uncertain significance, Cardiovascular phenotype; not provided
- G25R (p.Gly25Arg), TOPMed rs2072847660
- H26N (p.His26Asn), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, REVEL 0.41, CADD 27.30, Variant assessed as somatic; moderate impact.
- H26R (p.His26Arg), rs141664528, ClinGen CA9868930, ClinVar RCV001915994, ClinVar RCV002407050, REVEL 0.44, CADD 26.70, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilate
- H26Y (p.His26Tyr), rs1223183088, ClinGen CA409095583, ClinVar RCV004524509, ClinVar RCV005100612, AlphaMissense 0.29, MetaLR 0.16, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- G31D (p.Gly31Asp), rs1569226648, ClinGen CA409095550, ClinVar RCV000701324, ClinVar RCV003362909, REVEL 0.55, CADD 27.70, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- G31S (p.Gly31Ser), cosmic curated COSV10888, gnomAD rs1433674454, REVEL 0.31, CADD 28.10
- P32H (p.Pro32His), ExAC rs758053818, gnomAD rs758053818, REVEL 0.53, CADD 31.00
- P32S (p.Pro32Ser), Ensembl rs2072847363
- K33R (p.Lys33Arg), rs573848816, ClinGen CA9868927, ClinVar RCV000703807, 1000Genomes rs573848816, REVEL 0.22, CADD 29.80, Uncertain significance, Hypertrophic cardiomyopathy
- K33T (p.Lys33Thr), 1000Genomes rs573848816, ExAC rs573848816, gnomAD rs573848816, REVEL 0.36, CADD 30.00, Uncertain significance
- G34D (p.Gly34Asp), rs2515764734, ClinGen CA409095532, ClinVar RCV002362243, Uncertain significance, Cardiovascular phenotype
- Q35R (p.Gln35Arg), TOPMed rs1410165338, gnomAD rs1410165338, REVEL 0.43, CADD 29.00, Uncertain significance, Cardiovascular phenotype
- G36D (p.Gly36Asp), rs761193216, ClinGen CA9868925, ClinVar RCV002424365, ClinVar RCV003403822, REVEL 0.56, CADD 27.50, Uncertain significance, JPH2-related disorder; Cardiovascular phenotype
- G36S (p.Gly36Ser), cosmic curated COSV10943, ExAC rs764421421, gnomAD rs764421421, REVEL 0.29, CADD 28.10
- E37D (p.Glu37Asp), Ensembl rs1600483173
- E37K (p.Glu37Lys), rs1427861059, ClinGen CA409095517, NCI-TCGA Cosmic COSV6069, cosmic curated COSV60697, REVEL 0.38, AlphaMissense 1.00, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- E37Q (p.Glu37Gln), rs1427861059, ClinGen CA409095516, ClinVar RCV002017847, gnomAD rs1427861059, AlphaMissense 1.00, MetaLR 0.33, Uncertain significance, Hypertrophic cardiomyopathy
- Y38H (p.Tyr38His), Ensembl rs995578940, REVEL 0.73, CADD 31.00
- S39C (p.Ser39Cys), Ensembl rs905196217
- S39F (p.Ser39Phe), NCI-TCGA Cosmic COSV6069, cosmic curated COSV60697, Variant assessed as somatic; moderate impact.
- G40C (p.Gly40Cys), gnomAD rs1189550571, REVEL 0.89, CADD 29.50
- S41C (p.Ser41Cys), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- W42R (p.Trp42Arg), gnomAD rs1248902481, REVEL 0.74, CADD 32.00
- N43S (p.Asn43Ser), rs138992849, ClinGen CA335208, ClinVar RCV000525610, ClinVar RCV000620653, REVEL 0.14, CADD 23.10, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- F46S (p.Phe46Ser), ExAC rs767642742, gnomAD rs767642742, REVEL 0.51, CADD 32.00
- E47A (p.Glu47Ala), rs2072846446, ClinGen CA409095445, ClinVar RCV001051958, Ensembl rs2072846446, AlphaMissense 1.00, MetaLR 0.35, Uncertain significance, Hypertrophic cardiomyopathy
- V48A (p.Val48Ala), NCI-TCGA Cosmic COSV6069, cosmic curated COSV60698, Variant assessed as somatic; moderate impact.
- A49T (p.Ala49Thr), cosmic curated COSV10968, TOPMed rs1193192844, REVEL 0.11, CADD 24.30
- G50S (p.Gly50Ser), gnomAD rs1312773386
- G50V (p.Gly50Val), Ensembl rs2145906185
- V51I (p.Val51Ile), ExAC rs574925943, gnomAD rs574925943, REVEL 0.04, CADD 21.50
- V51L (p.Val51Leu), ExAC rs574925943, gnomAD rs574925943
- T53A (p.Thr53Ala), ExAC rs749486898, gnomAD rs749486898, REVEL 0.44, CADD 27.90
- W54* (p.Trp54Ter), rs769659929, NCI-TCGA Cosmic COSV6069, cosmic curated COSV60696, ExAC rs769659929, CADD 39.00, Variant assessed as somatic; high impact.
- P55L (p.Pro55Leu), rs1060499996, ClinGen CA16616225, ClinVar RCV000469903, Ensembl rs1060499996, REVEL 0.52, CADD 31.00, Uncertain significance, Hypertrophic cardiomyopathy
- S56R (p.Ser56Arg), ExAC rs748126772, gnomAD rs748126772, Likely benign
- G57R (p.Gly57Arg), rs1288721821, ClinGen CA409095384, NCI-TCGA Cosmic COSV6069, cosmic curated COSV60696, REVEL 0.80, CADD 29.00, Uncertain significance, not provided; Cardiovascular phenotype
- T59I (p.Thr59Ile), TOPMed rs1171742766, gnomAD rs1171742766, REVEL 0.33, AlphaMissense 0.25
- T59N (p.Thr59Asn), rs1171742766, ClinGen CA409095367, ClinVar RCV002614447, AlphaMissense 0.25, MetaLR 0.15, Uncertain significance, Hypertrophic cardiomyopathy
- E61K (p.Glu61Lys), gnomAD rs2072845419, REVEL 0.29, CADD 25.00
- G62V (p.Gly62Val), TOPMed rs1361417534, gnomAD rs1361417534, REVEL 0.95, CADD 27.40
- Y63C (p.Tyr63Cys), ExAC rs780923649, gnomAD rs780923649, REVEL 0.32, CADD 31.00
- W64* (p.Trp64Ter), rs754529157, ClinGen CA9868915, ClinVar RCV001029948, ExAC rs754529157, CADD 40.00, Likely pathogenic
- W64R (p.Trp64Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q66H (p.Gln66His), ESP rs375566439, ExAC rs375566439, gnomAD rs375566439
- Q66R (p.Gln66Arg), ExAC rs746556351, gnomAD rs746556351, REVEL 0.29, CADD 27.90
- K68Q (p.Lys68Gln), rs758036911, ClinGen CA9868912, ClinVar RCV002419748, ExAC rs758036911, REVEL 0.35, CADD 29.20, Uncertain significance, Cardiovascular phenotype
- R69Q (p.Arg69Gln), NCI-TCGA TCGA novel, REVEL 0.45, CADD 31.00, Uncertain significance, Hypertrophic cardiomyopathy
- R69W (p.Arg69Trp), rs2515764387, ClinGen CA409095299, ClinVar RCV002421944, REVEL 0.56, CADD 32.00, Uncertain significance, Cardiovascular phenotype
- G71E (p.Gly71Glu), TOPMed rs1456836627, gnomAD rs1456836627, REVEL 0.95, CADD 28.20, Uncertain significance, not provided
- G71R (p.Gly71Arg), Ensembl rs2072844994
- G71W (p.Gly71Trp), NCI-TCGA Cosmic COSV6069, cosmic curated COSV60697, Uncertain significance, Hypertrophic cardiomyopathy
- I74M (p.Ile74Met), rs2145906046, ClinGen CA409095264, ClinVar RCV003237692, Ensembl rs2145906046, AlphaMissense 0.10, MetaLR 0.19, Uncertain significance, not provided
- I74T (p.Ile74Thr), TOPMed rs1300809509, gnomAD rs1300809509, REVEL 0.20, CADD 28.10, Uncertain significance, Hypertrophic cardiomyopathy
- I74V (p.Ile74Val), rs1197530646, ClinGen CA409095269, ClinVar RCV001045760, ClinVar RCV005582501, REVEL 0.13, CADD 16.40, Conflicting interpretations, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- E75A (p.Glu75Ala), Ensembl rs545630939
- E75Q (p.Glu75Gln), NCI-TCGA Cosmic COSV6069, cosmic curated COSV60697, REVEL 0.29, CADD 27.20, Variant assessed as somatic; moderate impact.
- T76A (p.Thr76Ala), rs764474492, ClinGen CA9868910, ClinVar RCV000523455, ClinVar RCV002476061, REVEL 0.20, CADD 24.70, Uncertain significance, Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dil
- T76I (p.Thr76Ile), gnomAD rs1257714421, REVEL 0.22, CADD 28.00
- K77E (p.Lys77Glu), rs2072844538, ClinGen CA409095251, ClinVar RCV001341815, Ensembl rs2072844538, REVEL 0.36, CADD 31.00, Uncertain significance, Hypertrophic cardiomyopathy
- K77R (p.Lys77Arg), Ensembl rs775645341, REVEL 0.26, CADD 29.30
- G78E (p.Gly78Glu), Ensembl rs935473827
- R79C (p.Arg79Cys), rs753220253, ClinGen CA409095238, NCI-TCGA Cosmic COSV6069, cosmic curated COSV60696, REVEL 0.34, CADD 32.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- R79H (p.Arg79His), cosmic curated COSV10742, ExAC rs767968907, TOPMed rs767968907, gnomAD rs767968907, REVEL 0.10, CADD 22.80, Uncertain significance
- R79P (p.Arg79Pro), rs767968907, ClinGen CA9868907, ClinVar RCV003480364, ClinVar RCV006478675, REVEL 0.18, CADD 27.40, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- R79S (p.Arg79Ser), rs753220253, ClinGen CA9868908, ClinVar RCV003187451, ExAC rs753220253, REVEL 0.11, CADD 28.60, Uncertain significance, Cardiovascular phenotype
- Y82C (p.Tyr82Cys), rs774330827, ClinGen CA9868905, ClinVar RCV001991428, ClinVar RCV002443020, REVEL 0.67, CADD 32.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- K83R (p.Lys83Arg), ESP rs370935576, ExAC rs370935576, TOPMed rs370935576, gnomAD rs370935576, REVEL 0.05, CADD 22.70
- G84S (p.Gly84Ser), NCI-TCGA TCGA novel, Uncertain significance, Cardiovascular phenotype
- E85K (p.Glu85Lys), rs2515764210, ClinGen CA409095201, ClinVar RCV002433223, ClinVar RCV005635542, REVEL 0.43, CADD 31.00, Uncertain significance, not provided; Cardiovascular phenotype
- W86R (p.Trp86Arg), gnomAD rs2072843876, REVEL 0.72, CADD 32.00, Uncertain significance, Cardiovascular phenotype
- T87A (p.Thr87Ala), NCI-TCGA TCGA novel, REVEL 0.43, CADD 29.10, Variant assessed as somatic; moderate impact.
- H88Q (p.His88Gln), ExAC rs769714877, gnomAD rs769714877, REVEL 0.21, CADD 22.30, Likely benign
- G89D (p.Gly89Asp), rs1017359711, ClinGen CA315352177, cosmic curated COSV60697, ClinVar RCV003748474, REVEL 0.44, CADD 28.10, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- F90L (p.Phe90Leu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; moderate impact.
- K91R (p.Lys91Arg), rs2072843641, ClinGen CA409095154, ClinVar RCV002431355, ClinVar RCV006629468, AlphaMissense 0.71, MetaLR 0.10, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- R93C (p.Arg93Cys), rs747893109, ClinGen CA9868900, NCI-TCGA Cosmic COSV6069, cosmic curated COSV60697, REVEL 0.48, CADD 32.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilate
- R93H (p.Arg93His), rs1131692244, ClinGen CA409095142, ClinVar RCV000492071, ClinVar RCV000519697, REVEL 0.52, AlphaMissense 0.95, Uncertain significance, Cardiomyopathy, dilated, 2E; Hypertrophic cardiomyopathy 17; not provided
- R93L (p.Arg93Leu), rs1131692244, ClinGen CA409095140, ClinVar RCV004401395, AlphaMissense 0.95, MetaLR 0.17, Uncertain significance, Cardiovascular phenotype
- R93S (p.Arg93Ser), ExAC rs747893109, gnomAD rs747893109, REVEL 0.38, CADD 29.20, Uncertain significance
- Y94C (p.Tyr94Cys), ExAC rs776470860, gnomAD rs776470860, REVEL 0.43, CADD 32.00
- G95R (p.Gly95Arg), rs1228478375, ClinGen CA409095131, ClinVar RCV002435235, ClinVar RCV005098310, REVEL 0.65, CADD 28.50, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- I96V (p.Ile96Val), TOPMed rs1427831124, gnomAD rs1427831124, REVEL 0.04, CADD 12.40, Uncertain significance, Cardiovascular phenotype
- R97Q (p.Arg97Gln), rs1188450169, ClinGen CA409095116, ClinVar RCV000689863, gnomAD rs1188450169, REVEL 0.32, CADD 29.80, Uncertain significance, Hypertrophic cardiomyopathy
- R97W (p.Arg97Trp), rs746943770, ClinGen CA9868897, cosmic curated COSV10441, ClinVar RCV001053688, REVEL 0.30, CADD 32.00, Uncertain significance, Hypertrophic cardiomyopathy
- Q98R (p.Gln98Arg), Ensembl rs571986135, REVEL 0.11, CADD 26.20
- S99G (p.Ser99Gly), Ensembl rs975033292
- S99N (p.Ser99Asn), rs2515764096, ClinGen CA409095105, ClinVar RCV003587500, REVEL 0.04, CADD 22.50, Uncertain significance, Hypertrophic cardiomyopathy
- S99T (p.Ser99Thr), rs2515764096, ClinGen CA409095106, ClinVar RCV003750151, Uncertain significance, Hypertrophic cardiomyopathy
- S100* (p.Ser100Ter), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10065, Variant assessed as somatic; high impact.
- S100L (p.Ser100Leu), rs145401873, ClinGen CA315352144, ClinVar RCV000497753, ClinVar RCV001865571, REVEL 0.07, CADD 17.30, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy, dilated, 2E; Hypertrophic cardiomyopat
- S101N (p.Ser101Asn), rs1281048375, ClinGen CA409095092, ClinVar RCV002010505, ClinVar RCV002441182, REVEL 0.06, CADD 19.90, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- S101R (p.Ser101Arg), rs1600482909, ClinGen CA409095096, ClinVar RCV000023408, UniProt VAR 065471, REVEL 0.21, CADD 23.70, Pathogenic, Hypertrophic cardiomyopathy 17
- S102C (p.Ser102Cys), rs1378910974, ClinGen CA409095086, ClinVar RCV002444084, Ensembl rs1378910974, AlphaMissense 0.33, MetaLR 0.31, Uncertain significance, Cardiovascular phenotype
- S102R (p.Ser102Arg), rs779455211, ClinGen CA409095082, ClinVar RCV003587797, REVEL 0.29, CADD 21.40, Uncertain significance, Hypertrophic cardiomyopathy
- G103C (p.Gly103Cys), rs530754608, ClinGen CA409095079, cosmic curated COSV10065, ClinVar RCV003306455, REVEL 0.49, CADD 28.40, Uncertain significance, Cardiovascular phenotype
- G103S (p.Gly103Ser), rs530754608, ClinGen CA315352139, ClinVar RCV001315398, ClinVar RCV004034350, REVEL 0.30, CADD 24.80, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- A104T (p.Ala104Thr), gnomAD rs1485342055, REVEL 0.23, CADD 27.90
- A104V (p.Ala104Val), gnomAD rs1368091949, REVEL 0.35, CADD 29.60
- Y106C (p.Tyr106Cys), gnomAD rs1252364500, REVEL 0.94, CADD 32.00, Uncertain significance, Cardiovascular phenotype
- Y106D (p.Tyr106Asp), TOPMed rs1165983913, Uncertain significance
- Y106H (p.Tyr106His), rs1165983913, ClinGen CA409095061, ClinVar RCV002322626, ClinVar RCV006470495, REVEL 0.95, CADD 31.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- E107D (p.Glu107Asp), TOPMed rs2072842138
- E107K (p.Glu107Lys), ExAC rs771530889, gnomAD rs771530889
- G108D (p.Gly108Asp), rs2145905825, ClinGen CA409095043, NCI-TCGA Cosmic COSV6069, cosmic curated COSV60696, AlphaMissense 1.00, MetaLR 0.96, Uncertain significance, not provided
- G108S (p.Gly108Ser), gnomAD rs1336822960, REVEL 0.96, CADD 28.20
- T109I (p.Thr109Ile), rs1250442339, ClinGen CA409095035, ClinVar RCV004524504, ClinVar RCV006488803, REVEL 0.50, CADD 28.70, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- T109N (p.Thr109Asn), gnomAD rs1250442339, REVEL 0.40, CADD 27.50
- W110* (p.Trp110Ter), NCI-TCGA TCGA novel, CADD 40.00, Variant assessed as somatic; high impact.
- G113V (p.Gly113Val), rs2145905804, ClinGen CA409095004, ClinVar RCV001763190, ClinVar RCV006467851, AlphaMissense 1.00, MetaLR 0.69, Uncertain significance, Hypertrophic cardiomyopathy; not provided
- Q115E (p.Gln115Glu), ExAC rs745528112, gnomAD rs745528112, REVEL 0.29, CADD 27.50
- D116E (p.Asp116Glu), ExAC rs778483216, TOPMed rs778483216, gnomAD rs778483216, REVEL 0.26, CADD 20.20, Likely benign
- G117C (p.Gly117Cys), rs1414551155, ClinGen CA409094982, ClinVar RCV001299683, TOPMed rs1414551155, AlphaMissense 1.00, MetaLR 0.94, Uncertain significance, Hypertrophic cardiomyopathy
- G117D (p.Gly117Asp), rs1289294595, ClinGen CA409094980, ClinVar RCV001700660, ClinVar RCV003163795, REVEL 0.97, CADD 27.70, Uncertain significance, Cardiovascular phenotype
- G117S (p.Gly117Ser), rs1414551155, ClinGen CA409094981, ClinVar RCV002020022, ClinVar RCV002458973, REVEL 0.94, AlphaMissense 1.00, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Y118C (p.Tyr118Cys), ExAC rs756893070, gnomAD rs756893070, REVEL 0.54, CADD 32.00, Uncertain significance, not provided
- G119D (p.Gly119Asp), cosmic curated COSV60697, Ensembl rs1019928101, REVEL 0.95, CADD 27.50
- E121D (p.Glu121Asp), rs753073876, ClinGen CA409094953, cosmic curated COSV10742, ClinVar RCV002452425, REVEL 0.36, CADD 25.30, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- E121K (p.Glu121Lys), rs1569226231, ClinGen CA409094959, cosmic curated COSV10441, ClinVar RCV000702901, REVEL 0.41, CADD 31.00, Uncertain significance, Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dil
- T122I (p.Thr122Ile), Ensembl rs2145905721
- A124D (p.Ala124Asp), 1000Genomes rs191800007, REVEL 0.47, CADD 28.00
- A124T (p.Ala124Thr), rs150070513, ClinGen CA9868888, ClinVar RCV002353036, ESP rs150070513, REVEL 0.24, CADD 26.40, Uncertain significance, Cardiovascular phenotype
- D125N (p.Asp125Asn), rs372627882, ClinGen CA315352109, ClinVar RCV002471677, ClinVar RCV003164741, REVEL 0.36, CADD 27.30, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 17
- G126R (p.Gly126Arg), rs876657834, ClinGen CA10577123, cosmic curated COSV60696, ClinVar RCV000221991, REVEL 0.89, CADD 27.50, Uncertain significance, not specified; Hypertrophic cardiomyopathy
- G127E (p.Gly127Glu), NCI-TCGA Cosmic COSV6590, TOPMed rs2072602103, REVEL 0.40, CADD 29.60, Variant assessed as somatic; moderate impact.
- G127R (p.Gly127Arg), Ensembl rs540314426
- T128M (p.Thr128Met), rs1344351300, NCI-TCGA Cosmic COSV6590, gnomAD rs1344351300, REVEL 0.48, CADD 27.50, Uncertain significance, Cardiovascular phenotype
- Y129D (p.Tyr129Asp), rs777856415, ClinGen CA335214, ClinVar RCV000183465, ClinVar RCV000822701, REVEL 0.87, CADD 29.20, Uncertain significance, not specified; Hypertrophic cardiomyopathy
- Q132* (p.Gln132Ter), Ensembl rs2072601986
- F133L (p.Phe133Leu), NCI-TCGA Cosmic COSV1008, REVEL 0.39, CADD 26.20, Variant assessed as somatic; moderate impact.
- N135Y (p.Asn135Tyr), Ensembl rs2072601930
- G136R (p.Gly136Arg), ExAC rs767281714, TOPMed rs767281714, gnomAD rs767281714, REVEL 0.84, CADD 26.30, Uncertain significance
- G136S (p.Gly136Ser), rs767281714, ClinGen CA409094449, ClinVar RCV000690092, ExAC rs767281714, REVEL 0.81, CADD 26.10, Uncertain significance, Hypertrophic cardiomyopathy
- M137L (p.Met137Leu), rs1353491705, ClinGen CA409094442, ClinVar RCV003749661, ClinVar RCV004374306, REVEL 0.33, CADD 23.70, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- M137V (p.Met137Val), gnomAD rs1353491705, REVEL 0.33, CADD 25.10, Uncertain significance
- R138C (p.Arg138Cys), NCI-TCGA TCGA novel, REVEL 0.61, CADD 32.00, Variant assessed as somatic; moderate impact.
- R138H (p.Arg138His), NCI-TCGA Cosmic COSV6590, REVEL 0.57, CADD 27.50, Variant assessed as somatic; moderate impact.
- R138S (p.Arg138Ser), rs1312146372, ClinGen CA409094435, ClinVar RCV000788684, TOPMed rs1312146372, REVEL 0.65, CADD 28.20, Uncertain significance, not provided
Public JPH2 analysis runs
- JPH2 analysis run — JPH2 (1,526 variants) — completed 2026-08-21