MYPN (Myopalladin) variants and mutations
MYPN (also known as Myopalladin) is a human protein-coding gene encoding a myopalladin protein. It links sarcomeric and cytoskeletal proteins at the Z-disc and intercalated-disc regions, helping transmit mechanical force and maintain muscle architecture. Pathogenic variants can cause dilated or hypertrophic cardiomyopathy and, in some cases, skeletal myopathy. This analysis covers 2,299 MYPN variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes dilated cardiomyopathy 1KK, MYPN-related myopathy, and Abnormality of the cardiovascular system. Example MYPN variants include M1T, M1V, and Q2R.
Variant analysis overview
- Gene: MYPN
- Protein: Myopalladin
- UniProt accession: Q86TC9
- Organism: Homo sapiens
- Variants analyzed: 2299
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 2,032 unspecified-consequence records; 1 natural variant; 106 synonymous variants; 129 missense variants; 5 stop-gained variants; 21 frameshift variants; 3 in-frame deletions; 2 substitution
- Prediction scores: 1,535 variants have prediction scores (67% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: dilated cardiomyopathy 1KK, MYPN-related myopathy, Abnormality of the cardiovascular system, familial isolated dilated cardiomyopathy, familial isolated restrictive cardiomyopathy, cap myopathy, Rare familial disorder with hypertrophic cardiomyopathy, childhood-onset nemaline myopathy, dilated cardiomyopathy, inflammatory bowel disease, nemaline myopathy, familial restrictive cardiomyopathy.
Protein structure and variant hotspots
- Protein features: 5 domains; 10 post-translational modification sites.
- Structural context: 653 variants have structural context.
- PTM context: 16 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable MYPN variants
Examples include M1T, M1V, Q2R, Q2*, D3H, D3D, D4G, D4N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs2495459067, ClinGen CA377103399, ClinVar RCV003456704, Uncertain significance, not provided
- M1V (p.Met1Val), gnomAD 10-68106800-A-G, MetaLR 0.05, MetaSVM -1.02
- Q2R (p.Gln2Arg), rs1016752784, gnomAD 10-68106182-A-G, CADD 19.80, SIFT 0.11
- Q2* (p.Gln2Ter), rs1168251503, gnomAD 10-68106737-C-T, CADD 13.70
- D3H (p.Asp3His), gnomAD 10-68121445-G-C, REVEL 0.20, CADD 27.00
- D3D (p.Asp3Asp), rs772710994, gnomAD 10-68121447-C-T, CADD 9.57
- D4G (p.Asp4Gly), TOPMed rs1197594190, gnomAD rs1197594190, REVEL 0.18, CADD 23.10
- D4N (p.Asp4Asn), rs748778010, ExAC rs748778010, gnomAD rs748778010, REVEL 0.22, CADD 22.20, Uncertain significance, Cardiovascular phenotype
- D4Q (p.Asp4Gln), gnomAD 10-68121447-CGA-C, CADD 32.00
- D4Y (p.Asp4Tyr), gnomAD 10-68121448-G-T, REVEL 0.12, CADD 26.30
- S5I (p.Ser5Ile), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10058, Variant assessed as somatic; moderate impact.
- S5N (p.Ser5Asn), NCI-TCGA Cosmic COSV1005, REVEL 0.06, CADD 19.30, Variant assessed as somatic; moderate impact.
- S5R (p.Ser5Arg), rs1554839140, ClinGen CA377103427, ClinVar RCV000655045, Ensembl rs1554839140, REVEL 0.14, CADD 23.50, Uncertain significance, Dilated cardiomyopathy 1KK
- I6L (p.Ile6Leu), ExAC rs771419301, gnomAD rs771419301, REVEL 0.07, CADD 1.01
- I6T (p.Ile6Thr), rs774766927, ClinGen CA5522205, cosmic curated COSV62732, ClinVar RCV000800889, REVEL 0.10, CADD 22.50, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- I6V (p.Ile6Val), gnomAD 10-68121454-A-G, REVEL 0.13, CADD 2.71
- E7D (p.Glu7Asp), rs759945622, ClinGen CA377103446, ClinVar RCV001964428, ClinVar RCV003418268, REVEL 0.26, CADD 17.00, Uncertain significance, Dilated cardiomyopathy 1KK; not provided
- E7K (p.Glu7Lys), gnomAD 10-68121456-AG-A, CADD 33.00
- E7A (p.Glu7Ala), gnomAD 10-68121458-A-C, REVEL 0.32, CADD 26.70
- E7E (p.Glu7Glu), rs759945622, gnomAD 10-68121459-A-G, CADD 8.74
- A8P (p.Ala8Pro), rs2042239747, ClinGen CA377103449, ClinVar RCV002044116, ClinVar RCV005443411, REVEL 0.18, CADD 22.30, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- A8T (p.Ala8Thr), rs2042239747, ClinGen CA377103450, ClinVar RCV001973977, TOPMed rs2042239747, REVEL 0.20, CADD 21.40, Uncertain significance, Dilated cardiomyopathy 1KK
- A8V (p.Ala8Val), rs2495459325, ClinGen CA377103453, ClinVar RCV002450245, Uncertain significance, Cardiovascular phenotype
- S9P (p.Ser9Pro), gnomAD rs2042239798, REVEL 0.14, CADD 22.40
- S9T (p.Ser9Thr), gnomAD 10-68109678-G-C, CADD 15.80, SIFT 0.27
- S9N (p.Ser9Asn), gnomAD 10-68109678-G-A, CADD 16.00, SIFT 1.00
- S9F (p.Ser9Phe), gnomAD 10-68121464-C-T, REVEL 0.25, CADD 26.00
- S9S (p.Ser9Ser), rs1212177605, gnomAD 10-68121465-T-C, CADD 8.27
- T10S (p.Thr10Ser), rs1471820265, gnomAD 10-68106731-A-T, MetaLR 0.06, MetaSVM -1.06
- T10T (p.Thr10Thr), rs1188530969, gnomAD 10-68106733-C-T, CADD 1.89
- T10N (p.Thr10Asn), gnomAD 10-68106747-C-A, MetaLR 0.11, MetaSVM -1.03
- T10I (p.Thr10Ile), gnomAD 10-68121467-C-T, REVEL 0.16, CADD 24.20
- I12T (p.Ile12Thr), rs869025490, ClinGen CA351882, NCI-TCGA Cosmic COSV6273, cosmic curated COSV62731, REVEL 0.21, CADD 25.90, Uncertain significance, MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- I12V (p.Ile12Val), rs1564646814, ClinGen CA377103473, ClinVar RCV001996677, ClinVar RCV002458865, MetaLR 0.08, MetaSVM -1.04, Uncertain significance, Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- I12F (p.Ile12Phe), rs1159854025, gnomAD 10-68106791-A-T, MetaLR 0.09, MetaSVM -1.09
- I12N (p.Ile12Asn), gnomAD 10-68106792-T-A, MetaLR 0.11, MetaSVM -1.02
- I12I (p.Ile12Ile), gnomAD 10-68106793-C-A, CADD 17.40
- S13A (p.Ser13Ala), ExAC rs772628299, TOPMed rs772628299, gnomAD rs772628299
- S13C (p.Ser13Cys), rs775838889, ClinGen CA5522208, ClinVar RCV001894482, ExAC rs775838889, Uncertain significance, Dilated cardiomyopathy 1KK
- S13T (p.Ser13Thr), ExAC rs772628299, TOPMed rs772628299, gnomAD rs772628299, REVEL 0.09, CADD 21.90
- S13Y (p.Ser13Tyr), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10058, Variant assessed as somatic; moderate impact.
- S13I (p.Ser13Ile), gnomAD 10-68121472-A-AT, CADD 29.50
- S13L (p.Ser13Leu), gnomAD 10-68121474-AT-A, CADD 27.10
- S13S (p.Ser13Ser), rs1554839150, gnomAD 10-68121477-T-C, CADD 11.40
- Q14* (p.Gln14Ter), cosmic curated COSV10058, gnomAD rs1198206685, CADD 37.00
- Q14H (p.Gln14His), cosmic curated COSV10525
- Q14E (p.Gln14Glu), rs1159304336, gnomAD 10-68109707-C-G, CADD 18.70, SIFT 0.49
- Q14Q (p.Gln14Gln), rs760916544, gnomAD 10-68121480-G-A, CADD 4.37
- L15L (p.Leu15Leu), rs1004447012, gnomAD 10-68106175-C-T, CADD 17.50
- L15I (p.Leu15Ile), gnomAD 10-68106728-C-A, MetaLR 0.06, MetaSVM -1.06
- L15P (p.Leu15Pro), gnomAD 10-68121482-T-C, REVEL 0.36, CADD 28.00
- L16P (p.Leu16Pro), rs1241418398, ClinGen CA377103499, ClinVar RCV000655046, ClinVar RCV001756109, REVEL 0.47, CADD 28.30, Uncertain significance, not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- L16L (p.Leu16Leu), gnomAD 10-68106778-G-A, CADD 16.40
- R17K (p.Arg17Lys), rs764444384, ClinGen CA5522210, ClinVar RCV002335987, ExAC rs764444384, REVEL 0.28, CADD 24.60, Uncertain significance, Cardiovascular phenotype
- R17S (p.Arg17Ser), gnomAD 10-68106180-A-C, CADD 15.50, SIFT 0.14
- E18K (p.Glu18Lys), cosmic curated COSV62735
- E18D (p.Glu18Asp), rs876657919, ClinGen CA10576796, ClinVar RCV000213132, ClinVar RCV001234753, REVEL 0.31, CADD 20.80, Uncertain significance, MYPN-related myopathy; Dilated cardiomyopathy 1KK; not specified
- E18E (p.Glu18Glu), gnomAD 10-68121492-G-A, CADD 6.88
- S19N (p.Ser19Asn), rs1379540680, ClinGen CA377103517, ClinVar RCV001904085, ClinVar RCV005374835, REVEL 0.18, CADD 22.50, Uncertain significance, Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- S19R (p.Ser19Arg), ExAC rs753909344, gnomAD rs753909344, REVEL 0.28, CADD 23.80
- S19T (p.Ser19Thr), gnomAD 10-68106773-T-A, MetaLR 0.11, MetaSVM -1.02
- S19S (p.Ser19Ser), gnomAD 10-68106775-C-A, CADD 14.50
- S19G (p.Ser19Gly), gnomAD 10-68121493-A-G, REVEL 0.25, CADD 25.80
- Y20C (p.Tyr20Cys), rs140148105, ClinGen CA143769, ClinVar RCV000024504, ClinVar RCV000043545, REVEL 0.53, CADD 28.20, Conflicting interpretations, MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- L21* (p.Leu21Ter), Ensembl rs2042240579, CADD 37.00
- L21L (p.Leu21Leu), gnomAD 10-68106787-G-A, CADD 14.70
- L21K (p.Leu21Lys), gnomAD 10-68109709-ACT-A, CADD 17.00
- L21S (p.Leu21Ser), gnomAD 10-68121500-T-C, REVEL 0.26, CADD 23.00
- A22G (p.Ala22Gly), rs145142157, ClinGen CA5522213, ClinVar RCV000215815, ClinVar RCV000245230, REVEL 0.33, CADD 25.80, Conflicting interpretations, Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1KK
- A22T (p.Ala22Thr), NCI-TCGA TCGA novel, REVEL 0.32, CADD 26.70, Variant assessed as somatic; moderate impact.
- A22V (p.Ala22Val), 1000Genomes rs145142157, ESP rs145142157, ExAC rs145142157, TOPMed rs145142157, REVEL 0.31, CADD 26.10, Likely benign
- A22E (p.Ala22Glu), gnomAD 10-68106780-C-A, MetaLR 0.22, MetaSVM -0.77
- A22A (p.Ala22Ala), gnomAD 10-68121504-T-C, CADD 9.81
- E23D (p.Glu23Asp), rs1200405630, ClinGen CA377103546, ClinVar RCV000695557, ClinVar RCV001756205, REVEL 0.28, CADD 23.00, Uncertain significance, not provided; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- E23K (p.Glu23Lys), rs2042240739, ClinGen CA377103540, ClinVar RCV002369479, TOPMed rs2042240739, REVEL 0.39, CADD 28.90, Uncertain significance, Cardiovascular phenotype
- E23R (p.Glu23Arg), rs1564640695, gnomAD 10-68109711-T-TA, CADD 16.90
- E23A (p.Glu23Ala), gnomAD 10-68109720-A-C, CADD 18.30, SIFT 0.34
- T24N (p.Thr24Asn), rs2133993354, ClinGen CA377103551, ClinVar RCV002018024, Ensembl rs2133993354, Uncertain significance, Dilated cardiomyopathy 1KK
- T24K (p.Thr24Lys), cosmic curated COSV62737
- T24P (p.Thr24Pro), rs1337221374, gnomAD 10-68121505-GA-G, CADD 29.40
- T24A (p.Thr24Ala), gnomAD 10-68121508-A-G, REVEL 0.09, CADD 21.50
- T24I (p.Thr24Ile), gnomAD 10-68121509-C-T, REVEL 0.10, CADD 24.50
- T24T (p.Thr24Thr), gnomAD 10-68121510-C-T, CADD 8.52
- H26Y (p.His26Tyr), gnomAD rs1465652949, REVEL 0.17, CADD 24.80
- H26R (p.His26Arg), rs1376779535, gnomAD 10-68109693-A-G, CADD 19.30, SIFT 0.31
- H26L (p.His26Leu), gnomAD 10-68109699-A-T, CADD 18.50, SIFT 0.05
- R27G (p.Arg27Gly), rs754754810, ClinGen CA5522215, ClinVar RCV001065413, ExAC rs754754810, REVEL 0.09, CADD 22.70, Uncertain significance, Dilated cardiomyopathy 1KK
- R27P (p.Arg27Pro), rs529359915, ClinGen CA5522216, ClinVar RCV000216739, ClinVar RCV000655039, REVEL 0.19, CADD 19.80, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not specified
- R27Q (p.Arg27Gln), cosmic curated COSV10968, 1000Genomes rs529359915, ExAC rs529359915, TOPMed rs529359915, REVEL 0.12, CADD 10.00, Uncertain significance
- R27W (p.Arg27Trp), ExAC rs754754810, TOPMed rs754754810, gnomAD rs754754810, REVEL 0.08, CADD 23.70, Uncertain significance
- R27R (p.Arg27Arg), rs754754810, gnomAD 10-68121517-C-A, CADD 10.20
- R27L (p.Arg27Leu), gnomAD 10-68121518-G-T, REVEL 0.08, CADD 15.20
- G28R (p.Gly28Arg), ExAC rs748805804, gnomAD rs748805804, REVEL 0.15, CADD 22.60
- G28A (p.Gly28Ala), gnomAD 10-68121521-G-C, REVEL 0.24, CADD 25.20
- G28E (p.Gly28Glu), gnomAD 10-68121521-G-A, REVEL 0.22, CADD 24.10
- N29D (p.Asn29Asp), cosmic curated COSV62735
- N29K (p.Asn29Lys), Ensembl rs756617551, REVEL 0.06, CADD 14.70
- N29S (p.Asn29Ser), gnomAD 10-68121524-A-G, REVEL 0.12, CADD 18.70
- N29N (p.Asn29Asn), gnomAD 10-68121525-C-T, CADD 7.14
- N30Y (p.Asn30Tyr), gnomAD 10-68121526-A-T, REVEL 0.11, CADD 21.50
- N30N (p.Asn30Asn), rs770384853, gnomAD 10-68121528-T-C, CADD 5.52
- E31* (p.Glu31Ter), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10059, Variant assessed as somatic; high impact.
- E31A (p.Glu31Ala), ExAC rs779467038, gnomAD rs779467038, REVEL 0.27, CADD 24.60, Uncertain significance, not provided
- E31K (p.Glu31Lys), TOPMed rs1159043726, gnomAD rs1159043726, REVEL 0.32, CADD 28.90
- E31D (p.Glu31Asp), gnomAD 10-68121531-G-C, REVEL 0.28, CADD 21.90
- R32G (p.Arg32Gly), gnomAD rs1220705857, REVEL 0.27, CADD 23.30
- R32T (p.Arg32Thr), rs2495460087, ClinGen CA377103601, ClinVar RCV004519893, Uncertain significance, Cardiovascular phenotype
- R32W (p.Arg32Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R32E (p.Arg32Glu), rs1401491606, gnomAD 10-68121528-TGA-T, CADD 32.00
- R32M (p.Arg32Met), gnomAD 10-68121533-G-T, REVEL 0.28, CADD 22.70
- S33G (p.Ser33Gly), gnomAD rs923169496, REVEL 0.39, CADD 26.10
- S33R (p.Ser33Arg), gnomAD rs1311518691, REVEL 0.40, CADD 22.90
- S33S (p.Ser33Ser), gnomAD 10-68121537-T-C, CADD 8.69
- R34* (p.Arg34Ter), rs746431976, cosmic curated COSV10650, ExAC rs746431976, TOPMed rs746431976, CADD 37.00, Uncertain significance
- R34G (p.Arg34Gly), rs746431976, ClinGen CA5522223, ClinVar RCV004465241, ExAC rs746431976, REVEL 0.23, CADD 23.30, Uncertain significance, Cardiovascular phenotype
- R34Q (p.Arg34Gln), rs730880168, ClinGen CA346533, cosmic curated COSV62734, ClinVar RCV000157382, REVEL 0.17, CADD 23.90, Uncertain significance, Dilated cardiomyopathy 1KK; Cardiovascular phenotype; MYPN-related myopathy
- R34P (p.Arg34Pro), gnomAD 10-68121539-G-C, REVEL 0.23, CADD 25.80
- A35S (p.Ala35Ser), rs1287546364, ClinGen CA377103616, ClinVar RCV000701012, ClinVar RCV003235363, REVEL 0.11, CADD 17.50, Uncertain significance, not provided; Dilated cardiomyopathy 1KK
- A35V (p.Ala35Val), rs775961606, ClinGen CA5522224, ClinVar RCV003072828, ExAC rs775961606, REVEL 0.21, CADD 23.60, Uncertain significance, Dilated cardiomyopathy 1KK
- A35G (p.Ala35Gly), gnomAD 10-68121542-C-G, REVEL 0.22, CADD 23.40
- A35A (p.Ala35Ala), rs533632772, gnomAD 10-68121543-G-C, CADD 3.64
- E36D (p.Glu36Asp), rs2495460252, ClinGen CA2580081717, ClinVar RCV003213684, Uncertain significance
- E36G (p.Glu36Gly), TOPMed rs2042241903, REVEL 0.21, CADD 24.00
- E36Q (p.Glu36Gln), rs768904251, ClinGen CA5522226, ClinVar RCV001568701, ClinVar RCV001866010, REVEL 0.11, CADD 25.10, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provided
- P37S (p.Pro37Ser), rs1048512621, ClinGen CA209185510, ClinVar RCV000845528, TOPMed rs1048512621, REVEL 0.11, CADD 17.40, Uncertain significance, Primary familial dilated cardiomyopathy
- P37Q (p.Pro37Gln), gnomAD 10-68106768-C-A, MetaLR 0.08, MetaSVM -1.08
- P37T (p.Pro37Thr), gnomAD 10-68109695-C-A, CADD 16.70, SIFT 0.05
- P37R (p.Pro37Arg), gnomAD 10-68121548-C-G, REVEL 0.14, CADD 24.40
- P37P (p.Pro37Pro), rs776759477, gnomAD 10-68121549-C-T, CADD 6.09
- S38F (p.Ser38Phe), rs549116983, ClinGen CA5522228, cosmic curated COSV10649, ClinVar RCV001927574, REVEL 0.15, CADD 23.80, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- S38T (p.Ser38Thr), rs761950155, ClinGen CA335263, ClinVar RCV000183564, ClinVar RCV000797642, REVEL 0.06, CADD 20.20, Conflicting interpretations, MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- N40D (p.Asn40Asp), rs2495460352, ClinGen CA377103643, ClinVar RCV003168450, Uncertain significance, Cardiovascular phenotype
- N40I (p.Asn40Ile), rs2133993599, ClinGen CA377103646, ClinVar RCV001364703, ClinVar RCV002350685, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- N40K (p.Asn40Lys), rs750516979, ExAC rs750516979, TOPMed rs750516979, gnomAD rs750516979, REVEL 0.06, CADD 17.20, Uncertain significance, Cardiovascular phenotype
- N40S (p.Asn40Ser), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10059, Variant assessed as somatic; moderate impact.
- P41A (p.Pro41Ala), ExAC rs759400657, TOPMed rs759400657, gnomAD rs759400657, REVEL 0.07, CADD 13.70, Uncertain significance
- P41L (p.Pro41Leu), cosmic curated COSV99057, ExAC rs767471955, TOPMed rs767471955, gnomAD rs767471955, REVEL 0.12, CADD 21.00
- P41S (p.Pro41Ser), rs759400657, ClinGen CA209185512, ClinVar RCV000621178, ClinVar RCV001362433, REVEL 0.07, CADD 14.70, Uncertain significance, Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- P41T (p.Pro41Thr), rs759400657, ClinGen CA377103648, ClinVar RCV001823425, ExAC rs759400657, REVEL 0.09, CADD 15.20, Uncertain significance, Hypertrophic cardiomyopathy
- P41P (p.Pro41Pro), rs2042242365, gnomAD 10-68121561-T-C, CADD 12.10
- C42F (p.Cys42Phe), gnomAD 10-68121563-G-T, REVEL 0.13, CADD 13.50
- C42C (p.Cys42Cys), gnomAD 10-68121564-C-T, CADD 8.34
- H43L (p.His43Leu), ExAC rs752439535, TOPMed rs752439535, gnomAD rs752439535, REVEL 0.07, CADD 16.80, Uncertain significance
- H43N (p.His43Asn), Ensembl rs2042242406, REVEL 0.19, CADD 19.90
- H43R (p.His43Arg), rs752439535, ClinGen CA5522232, ClinVar RCV002008229, ClinVar RCV003170380, REVEL 0.10, CADD 17.10, Uncertain significance, Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- H43H (p.His43His), gnomAD 10-68121567-T-C, CADD 7.57
- F44L (p.Phe44Leu), rs2133993682, ClinGen CA377103672, ClinVar RCV001994412, Ensembl rs2133993682, Uncertain significance, Dilated cardiomyopathy 1KK
- F44F (p.Phe44Phe), gnomAD 10-68121570-C-T, CADD 7.26
- G45R (p.Gly45Arg), rs1297861595, ClinGen CA377103675, ClinVar RCV001927820, ClinVar RCV003167091, REVEL 0.05, CADD 20.00, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- G45S (p.Gly45Ser), rs1297861595, ClinGen CA377103674, cosmic curated COSV62741, ClinVar RCV000655034, REVEL 0.10, CADD 15.70, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- G45V (p.Gly45Val), ExAC rs755951440, REVEL 0.04, CADD 22.00
- S46C (p.Ser46Cys), gnomAD rs1343630699, REVEL 0.07, CADD 15.40, Uncertain significance, Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- S46T (p.Ser46Thr), TOPMed rs905694884, Uncertain significance, Cardiovascular phenotype
- S46S (p.Ser46Ser), rs1010889936, gnomAD 10-68121576-T-C, CADD 10.90
- P47H (p.Pro47His), rs777446804, ClinGen CA377103688, ClinVar RCV004519864, Uncertain significance, Cardiovascular phenotype
- P47L (p.Pro47Leu), rs777446804, ClinGen CA5522234, cosmic curated COSV62739, ClinVar RCV000802243, REVEL 0.07, CADD 17.30, Conflicting interpretations, Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provided
- P47R (p.Pro47Arg), rs777446804, ClinGen CA377103689, ClinVar RCV001039842, ExAC rs777446804, Uncertain significance, Dilated cardiomyopathy 1KK
- P47S (p.Pro47Ser), TOPMed rs1043762674, gnomAD rs1043762674, REVEL 0.15, CADD 9.68
- S48S (p.Ser48Ser), rs999817906, gnomAD 10-68121582-T-C, CADD 8.42
- G49V (p.Gly49Val), NCI-TCGA Cosmic COSV6273, cosmic curated COSV62731, Variant assessed as somatic; moderate impact.
- G49G (p.Gly49Gly), rs1286172264, gnomAD 10-68121585-G-A, CADD 6.68
- A50D (p.Ala50Asp), rs753497003, ClinGen CA377103705, ClinVar RCV002389866, ExAC rs753497003, REVEL 0.07, CADD 15.90, Uncertain significance, Cardiovascular phenotype
- A50G (p.Ala50Gly), NCI-TCGA Cosmic COSV6273, cosmic curated COSV62731, Variant assessed as somatic; moderate impact.
- A50T (p.Ala50Thr), gnomAD rs1293891652, REVEL 0.17, CADD 19.50
- A50V (p.Ala50Val), ExAC rs753497003, TOPMed rs753497003, gnomAD rs753497003, REVEL 0.07, CADD 17.40, Uncertain significance
- A50A (p.Ala50Ala), gnomAD 10-68121588-C-G, CADD 8.57
- A51T (p.Ala51Thr), rs2495460693, ClinGen CA377103708, ClinVar RCV003055119, ClinVar RCV004983279, Uncertain significance, Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- E52K (p.Glu52Lys), rs2042243248, ClinGen CA377103713, ClinVar RCV001049135, Ensembl rs2042243248, Uncertain significance, Dilated cardiomyopathy 1KK
- G53E (p.Gly53Glu), rs2042243303, ClinGen CA377103726, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10058, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- G53V (p.Gly53Val), rs2042243303, ClinGen CA377103724, ClinVar RCV002398407, Uncertain significance, Cardiovascular phenotype
- G53R (p.Gly53Arg), gnomAD 10-68121595-G-A, REVEL 0.09, CADD 23.50
- G53G (p.Gly53Gly), gnomAD 10-68121597-A-G, CADD 6.29
- G54A (p.Gly54Ala), rs2042243361, ClinGen CA377103731, ClinVar RCV002574153, TOPMed rs2042243361, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- G54G (p.Gly54Gly), rs568864902, gnomAD 10-68121600-C-T, CADD 1.25
- G55R (p.Gly55Arg), rs2042243448, ClinGen CA377103733, ClinVar RCV001217056, NCI-TCGA TCGA novel, REVEL 0.08, CADD 15.70, Uncertain significance, Dilated cardiomyopathy 1KK
- G55E (p.Gly55Glu), gnomAD 10-68121602-G-A, REVEL 0.07, CADD 15.10
- G56A (p.Gly56Ala), Ensembl rs2133993865
- G56R (p.Gly56Arg), 1000Genomes rs189718354, ExAC rs189718354, gnomAD rs189718354, REVEL 0.04, CADD 22.50
- G56S (p.Gly56Ser), 1000Genomes rs189718354, ExAC rs189718354, gnomAD rs189718354
- G56W (p.Gly56Trp), cosmic curated COSV10059
Public MYPN analysis runs
- MYPN analysis run — MYPN (2,299 variants) — completed 2026-08-20