TMEM43 (Transmembrane protein 43) variants and mutations
TMEM43 (also known as Transmembrane protein 43) is a human protein-coding gene encoding a transmembrane protein 43 protein. A multi-pass membrane protein that helps organize protein complexes at the inner nuclear membrane and retain emerin. It also participates in innate-immune signaling and contributes to electrical coupling in the inner ear, with variants linked to cardiomyopathy and auditory neuropathy. This analysis covers 758 TMEM43 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, autosomal dominant, and Arrhythmogenic right ventricular dysplasia. Example TMEM43 variants include M1I, M1K, and M1V.
Variant analysis overview
- Gene: TMEM43
- Protein: Transmembrane protein 43
- UniProt accession: Q9BTV4
- Organism: Homo sapiens
- Variants analyzed: 758
- Variant scope: all variants
- Completed: 2026-06-26
Variant and mutation evidence
- Variant composition: 658 unspecified-consequence records; 35 missense variants; 51 synonymous variants; 6 frameshift variants; 1 stop-gained variants; 3 in-frame deletions; 3 splice-region variants; 1 substitution
- Prediction scores: 703 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, autosomal dominant, Arrhythmogenic right ventricular dysplasia, auditory neuropathy, autosomal dominant 3, arrhythmogenic right ventricular cardiomyopathy, cardiomyopathy, Abnormality of the cardiovascular system, dilated cardiomyopathy, autosomal dominant Emery-Dreifuss muscular dystrophy, familial isolated arrhythmogenic ventricular dysplasia, left dominant form, familial isolated arrhythmogenic ventricular dysplasia, right dominant form, familial isolated arrhythmogenic ventricular dysplasia, biventricular form.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 1 post-translational modification sites.
- Structural context: 150 variants have structural context.
- PTM context: 4 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, PharmGKB, MaveDB, LitVar.
Notable TMEM43 variants
Examples include M1I, M1K, M1V, A2P, A2D, A2V, A2A, A3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2470170017, ClinGen CA351533959, ClinVar RCV004015454, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- M1K (p.Met1Lys), rs765619239, ClinGen CA052802, ClinVar RCV001804294, MetaLR 0.14, MetaSVM -0.91, Uncertain significance, Cardiomyopathy
- M1V (p.Met1Val), rs757083718, ClinGen CA052143, ClinVar RCV000622149, ClinVar RCV002477353, MetaLR 0.09, MetaSVM -1.05, Uncertain significance, Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, au
- A2P (p.Ala2Pro), rs1695000807, ClinGen CA351533963, ClinVar RCV001345031, Ensembl rs1695000807, AlphaMissense 0.11, MetaLR 0.06, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- A2D (p.Ala2Asp), gnomAD 3-14125198-C-A, REVEL 0.05, CADD 21.80
- A2V (p.Ala2Val), gnomAD 3-14125198-C-T, REVEL 0.06, CADD 21.50
- A2A (p.Ala2Ala), rs1262797668, gnomAD 3-14125199-C-A, CADD 6.79
- A3E (p.Ala3Glu), gnomAD rs587780964
- A3G (p.Ala3Gly), rs587780964, ClinGen CA351533972, ClinVar RCV004009879, AlphaMissense 0.17, MetaLR 0.06, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- A3T (p.Ala3Thr), rs2470170038, ClinGen CA351533968, ClinVar RCV003109027, ClinVar RCV005505621, REVEL 0.09, CADD 20.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype
- A3V (p.Ala3Val), gnomAD rs587780964, SIFT 0.28
- N4I (p.Asn4Ile), rs2470170053, ClinGen CA351533976, NCI-TCGA Cosmic COSV5550, ClinVar RCV003601427, REVEL 0.12, CADD 24.90, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- N4K (p.Asn4Lys), gnomAD rs1235789714, REVEL 0.07, CADD 18.20
- Y5* (p.Tyr5Ter), gnomAD rs1186672026, CADD 36.00
- Y5C (p.Tyr5Cys), rs753209951, ClinGen CA051888, ClinVar RCV002389889, ClinVar RCV003095243, REVEL 0.08, CADD 24.70, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5
- Y5H (p.Tyr5His), rs727505249, ClinGen CA024602, ClinVar RCV000156770, ClinVar RCV001177858, REVEL 0.05, CADD 23.20, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- Y5F (p.Tyr5Phe), gnomAD 3-14129413-A-T, REVEL 0.05, CADD 18.10
- S6C (p.Ser6Cys), rs756575126, ClinGen CA052084, ClinVar RCV002407871, ClinVar RCV004007364, REVEL 0.06, CADD 23.40, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- S6A (p.Ser6Ala), gnomAD 3-14129415-T-G, REVEL 0.08, CADD 18.80
- S6S (p.Ser6Ser), gnomAD 3-14129417-C-T, CADD 4.93
- S7G (p.Ser7Gly), rs2470176195, ClinGen CA351534168, ClinVar RCV002417085, ClinVar RCV004007386, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5
- S7N (p.Ser7Asn), Ensembl rs1695062554, REVEL 0.05, CADD 1.23
- S7R (p.Ser7Arg), rs371236613, ClinGen CA052266, ClinVar RCV000819242, ESP rs371236613, REVEL 0.01, CADD 9.50, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- S7S (p.Ser7Ser), rs371236613, gnomAD 3-14129420-T-C, CADD 4.92
- T8A (p.Thr8Ala), Ensembl rs2124985480, SIFT 0.28
- T8N (p.Thr8Asn), rs1190861510, ClinGen CA351534179, ClinVar RCV002465188, TOPMed rs1190861510, REVEL 0.01, CADD 0.52, Uncertain significance, Cardiomyopathy
- S9G (p.Ser9Gly), rs1054032061, ClinGen CA69728522, ClinVar RCV001191999, ClinVar RCV004010557, REVEL 0.01, CADD 1.36, Likely benign, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- S9N (p.Ser9Asn), rs1695062743, ClinGen CA351534182, ClinVar RCV001961169, gnomAD rs1695062743, REVEL 0.08, AlphaMissense 0.10, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- S9R (p.Ser9Arg), rs1054032061, ClinGen CA351534180, ClinVar RCV003533505, Ensembl rs1054032061, REVEL 0.01, CADD 1.38, Uncertain significance, Cardiomyopathy
- S9T (p.Ser9Thr), rs1695062743, ClinGen CA351534183, ClinVar RCV001524255, gnomAD rs1695062743, AlphaMissense 0.10, MetaLR 0.10, Uncertain significance, Cardiomyopathy
- T10P (p.Thr10Pro), gnomAD 3-14129427-A-C, REVEL 0.03, CADD 5.23
- T10I (p.Thr10Ile), gnomAD 3-14129428-C-T, REVEL 0.03, CADD 6.64
- T10T (p.Thr10Thr), rs757554576, gnomAD 3-14129429-C-T, CADD 3.68
- R11G (p.Arg11Gly), rs201085402, ClinGen CA052861, ClinVar RCV001192071, ClinVar RCV002307696, REVEL 0.12, CADD 16.30, Uncertain significance, not provided; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- R11Q (p.Arg11Gln), rs568179990, ClinGen CA052949, ClinVar RCV000777688, ClinVar RCV001323436, REVEL 0.05, CADD 19.60, Uncertain significance, Cardiovascular phenotype; not provided; Arrhythmogenic right ventricular dysplas
- R11W (p.Arg11Trp), rs201085402, ClinGen CA052872, ClinVar RCV000774137, ClinVar RCV001324439, REVEL 0.18, CADD 22.30, Conflicting interpretations, not provided; Cardiovascular phenotype; Arrhythmogenic right ventricular dysplas
- R11R (p.Arg11Arg), gnomAD 3-14129430-C-A, CADD 5.80
- R12K (p.Arg12Lys), rs1559359985, ClinGen CA351534197, ClinVar RCV000774062, ClinVar RCV005092268, REVEL 0.05, CADD 5.37, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy
- E13K (p.Glu13Lys), ExAC rs748116470, gnomAD rs748116470, REVEL 0.06, CADD 22.40
- E13E (p.Glu13Glu), rs1444701312, gnomAD 3-14129438-A-G, CADD 6.67
- H14Q (p.His14Gln), rs773252383, ClinGen CA351534215, ClinVar RCV003533506, Uncertain significance, Cardiomyopathy
- H14R (p.His14Arg), rs1695063152, ClinGen CA351534212, ClinVar RCV002327846, TOPMed rs1695063152, REVEL 0.17, CADD 24.50, Uncertain significance, Cardiovascular phenotype
- H14Y (p.His14Tyr), rs769902062, ClinGen CA053471, ClinVar RCV002578946, ClinVar RCV006363184, REVEL 0.13, CADD 20.30, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy; Cardiovascular phe
- H14L (p.His14Leu), gnomAD 3-14129440-A-T, REVEL 0.26, CADD 25.10
- H14H (p.His14His), rs773252383, gnomAD 3-14129441-T-C, CADD 3.79
- V15V (p.Val15Val), rs150334659, gnomAD 3-14129444-C-G, CADD 5.41
- K16I (p.Lys16Ile), rs770619613, ClinGen CA351534226, ClinVar RCV000773325, ClinVar RCV001869093, REVEL 0.05, CADD 21.90, Uncertain significance, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- K16N (p.Lys16Asn), rs1695063356, ClinGen CA351534228, ClinVar RCV001185873, Ensembl rs1695063356, REVEL 0.02, CADD 18.40, Uncertain significance, Cardiomyopathy
- K16R (p.Lys16Arg), rs770619613, ClinGen CA053903, ClinVar RCV001188716, ClinVar RCV002272405, REVEL 0.04, CADD 10.90, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype; Cardiomy
- V17A (p.Val17Ala), rs1695063437, ClinGen CA351534232, ClinVar RCV001176422, Ensembl rs1695063437, AlphaMissense 0.20, MetaLR 0.07, Uncertain significance, Cardiomyopathy
- V17I (p.Val17Ile), rs370973153, ClinGen CA053974, ClinVar RCV000697992, ClinVar RCV002334339, REVEL 0.01, CADD 1.75, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype
- V17V (p.Val17Val), rs397517383, gnomAD 3-14129450-T-G, CADD 0.46
- K18R (p.Lys18Arg), rs1214893591, ClinGen CA351534238, ClinVar RCV000701781, ClinVar RCV001177158, REVEL 0.02, CADD 13.70, Uncertain significance, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe
- T19A (p.Thr19Ala), gnomAD rs1284316021, REVEL 0.04, CADD 6.31
- T19S (p.Thr19Ser), ExAC rs759612558, gnomAD rs759612558, REVEL 0.04, CADD 2.48
- T19N (p.Thr19Asn), gnomAD 3-14129455-C-A, REVEL 0.04, CADD 4.73
- T19T (p.Thr19Thr), rs1215994204, gnomAD 3-14129456-C-T, CADD 1.60
- S20N (p.Ser20Asn), rs1261978753, ClinGen CA351534250, ClinVar RCV003602200, TOPMed rs1261978753, REVEL 0.04, CADD 6.47, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- S20R (p.Ser20Arg), TOPMed rs766364454, gnomAD rs766364454, SIFT 1.00, Likely benign
- S20T (p.Ser20Thr), rs1261978753, ClinGen CA351534251, ClinVar RCV001984323, ClinVar RCV003234154, REVEL 0.03, CADD 5.76, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; not provided
- S20S (p.Ser20Ser), rs766364454, gnomAD 3-14129459-C-T, CADD 2.06
- S21C (p.Ser21Cys), rs794729183, ClinGen CA351534258, ClinVar RCV003600332, REVEL 0.03, CADD 13.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- S21F (p.Ser21Phe), rs794729183, ClinGen CA024726, ClinVar RCV000183961, ClinVar RCV003765144, REVEL 0.03, CADD 17.20, Uncertain significance, Cardiovascular phenotype; not provided; Arrhythmogenic right ventricular dysplas
- S21P (p.Ser21Pro), gnomAD 3-14129459-CT-C, CADD 11.90
- Q22* (p.Gln22Ter), rs1695063853, ClinGen CA351534260, ClinVar RCV001174705, NCI-TCGA TCGA novel, CADD 36.00, Uncertain significance
- Q22H (p.Gln22His), TOPMed rs1199827592, gnomAD rs1199827592, REVEL 0.05, CADD 20.30
- Q22R (p.Gln22Arg), rs2470176335, ClinGen CA351534263, ClinVar RCV003496147, REVEL 0.04, CADD 22.10, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- Q22Q (p.Gln22Gln), rs1199827592, gnomAD 3-14129465-G-A, CADD 8.65
- P23S (p.Pro23Ser), NCI-TCGA Cosmic COSV5550, SIFT 0.04, Variant assessed as somatic; moderate impact.
- P23A (p.Pro23Ala), rs1300909566, gnomAD 3-14129463-C-CA, CADD 26.90
- P23P (p.Pro23Pro), rs767619018, gnomAD 3-14129468-A-C, CADD 8.62
- G24S (p.Gly24Ser), Ensembl rs1042990733, SIFT 0.08
- G24D (p.Gly24Asp), gnomAD 3-14129470-G-A, REVEL 0.33, CADD 27.00
- G24A (p.Gly24Ala), gnomAD 3-14129470-G-C, REVEL 0.28, CADD 26.10
- F25L (p.Phe25Leu), gnomAD 3-14129472-T-C, REVEL 0.21, CADD 27.40
- L26P (p.Leu26Pro), rs2124985579, ClinGen CA351534290, ClinVar RCV001922351, Ensembl rs2124985579, AlphaMissense 0.75, MetaLR 0.25, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- L26L (p.Leu26Leu), rs752727608, gnomAD 3-14129475-C-T, CADD 9.36
- E27G (p.Glu27Gly), ExAC rs760725387, gnomAD rs760725387, REVEL 0.41, CADD 29.50
- E27* (p.Glu27Ter), gnomAD 3-14129478-G-T, CADD 39.00
- E27E (p.Glu27Glu), rs764648241, gnomAD 3-14129480-A-G, CADD 9.44
- R28P (p.Arg28Pro), rs757651177, ClinGen CA351534299, ClinVar RCV001899283, ExAC rs757651177, AlphaMissense 0.98, MetaLR 0.33, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- R28Q (p.Arg28Gln), rs757651177, ClinGen CA055775, ClinVar RCV000550780, ClinVar RCV000786222, REVEL 0.17, AlphaMissense 0.98, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy
- R28W (p.Arg28Trp), rs35028636, ClinGen CA024766, ClinVar RCV000039392, ClinVar RCV000231100, REVEL 0.40, CADD 26.90, Benign/Likely benign, Auditory neuropathy, autosomal dominant 3; Arrhythmogenic right ventricular dysp
- L29P (p.Leu29Pro), rs1695064359, ClinGen CA351534304, ClinVar RCV001187150, Ensembl rs1695064359, REVEL 0.47, CADD 28.20, Uncertain significance, Cardiomyopathy
- L29L (p.Leu29Leu), rs1458468961, gnomAD 3-14129486-G-A, CADD 9.39
- S30N (p.Ser30Asn), rs570799464, ClinGen CA056198, ClinVar RCV001176815, ClinVar RCV001518676, REVEL 0.13, CADD 22.50, Benign/Likely benign, Arrhythmogenic right ventricular dysplasia 5; not provided; Cardiomyopathy
- S30S (p.Ser30Ser), rs373839281, gnomAD 3-14129489-C-T, CADD 3.20
- E31K (p.Glu31Lys), rs754536393, ClinGen CA056258, ClinVar RCV000244386, ClinVar RCV000707015, REVEL 0.06, CADD 22.70, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy
- E31Q (p.Glu31Gln), gnomAD 3-14129490-G-C, REVEL 0.05, CADD 21.80
- T32T (p.Thr32Thr), rs1021721320, gnomAD 3-14129495-C-T, CADD 7.57
- S33L (p.Ser33Leu), rs539753097, ClinGen CA024811, ClinVar RCV000642412, ClinVar RCV001181147, REVEL 0.06, CADD 15.80, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- S33A (p.Ser33Ala), gnomAD 3-14129496-T-G, REVEL 0.05, CADD 18.70
- S33W (p.Ser33Trp), gnomAD 3-14129497-C-G, REVEL 0.05, CADD 18.80
- S33S (p.Ser33Ser), rs147710692, gnomAD 3-14129498-G-A, CADD 10.50
- G34C (p.Gly34Cys), TOPMed rs1376541965, gnomAD rs1376541965, REVEL 0.27, CADD 23.30, Uncertain significance
- G34R (p.Gly34Arg), TOPMed rs1376541965, gnomAD rs1376541965, SIFT 0.06, Uncertain significance
- G34S (p.Gly34Ser), rs1376541965, ClinGen CA351534331, ClinVar RCV002050856, TOPMed rs1376541965, REVEL 0.19, CADD 24.00, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- G34D (p.Gly34Asp), gnomAD 3-14129500-G-A, REVEL 0.25, CADD 24.00
- G34G (p.Gly34Gly), rs1474026817, gnomAD 3-14129501-T-A, CADD 2.51
- G35W (p.Gly35Trp), gnomAD rs1224024990, REVEL 0.50, CADD 29.80, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- G35R (p.Gly35Arg), gnomAD 3-14129502-G-A, REVEL 0.67, CADD 32.00
- G35G (p.Gly35Gly), rs1308637165, gnomAD 3-14129504-G-C, CADD 2.90
- M36I (p.Met36Ile), rs1695064905, ClinGen CA351534349, ClinVar RCV001190070, ClinVar RCV004010404, AlphaMissense 0.72, MetaLR 0.05, Uncertain significance, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; not provided
- M36K (p.Met36Lys), rs1695064880, ClinGen CA351534346, ClinVar RCV001306723, TOPMed rs1695064880, REVEL 0.19, CADD 23.60, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5
- M36V (p.Met36Val), rs2470176497, ClinGen CA351534344, ClinVar RCV002605745, REVEL 0.16, CADD 17.90, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- M36R (p.Met36Arg), gnomAD 3-14129506-T-G, REVEL 0.19, CADD 24.60
- M36T (p.Met36Thr), gnomAD 3-14129506-T-C, REVEL 0.09, CADD 20.60
- F37C (p.Phe37Cys), rs1695064977, ClinGen CA351534357, ClinVar RCV001188794, ClinVar RCV001365235, REVEL 0.19, CADD 25.10, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- F37L (p.Phe37Leu), rs1695064937, ClinGen CA351534354, ClinVar RCV001188491, Ensembl rs1695064937, AlphaMissense 0.38, MetaLR 0.03, Uncertain significance, Cardiomyopathy
- V38E (p.Val38Glu), rs1695065091, ClinGen CA351534362, ClinVar RCV001326651, Ensembl rs1695065091, AlphaMissense 0.93, MetaLR 0.18, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- V38L (p.Val38Leu), TOPMed rs977468112, gnomAD rs977468112, SIFT 0.29, Uncertain significance
- V38M (p.Val38Met), rs977468112, ClinGen CA351534361, ClinVar RCV000642419, ClinVar RCV001183065, REVEL 0.17, CADD 25.40, Uncertain significance, not specified; Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy
- G39G (p.Gly39Gly), rs1231946683, gnomAD 3-14129516-G-C, CADD 7.58
- L40V (p.Leu40Val), rs755682525, ClinGen CA051438, ClinVar RCV000685107, ClinVar RCV001191639, REVEL 0.09, CADD 18.50, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; not provided
- L40S (p.Leu40Ser), gnomAD 3-14129516-GC-G, CADD 25.60
- L40L (p.Leu40Leu), rs777915392, gnomAD 3-14129519-C-T, CADD 9.21
- M41L (p.Met41Leu), ESP rs144334386, ExAC rs144334386, TOPMed rs144334386, gnomAD rs144334386, REVEL 0.01, CADD 6.16, Likely benign
- M41V (p.Met41Val), rs144334386, ClinGen CA024600, ClinVar RCV000172113, ClinVar RCV000770178, REVEL 0.02, CADD 5.62, Conflicting interpretations, not provided; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular pheno
- M41I (p.Met41Ile), gnomAD 3-14129522-G-A, REVEL 0.06, CADD 19.60
- A42S (p.Ala42Ser), rs2124985701, ClinGen CA351534386, ClinVar RCV001924685, Ensembl rs2124985701, AlphaMissense 0.15, MetaLR 0.06, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- L44P (p.Leu44Pro), rs1695065337, ClinGen CA351534401, ClinVar RCV003306490, gnomAD rs1695065337, REVEL 0.23, CADD 23.20, Uncertain significance, Cardiovascular phenotype
- L44L (p.Leu44Leu), rs770765460, gnomAD 3-14129531-G-A, CADD 8.96
- L45F (p.Leu45Phe), rs1451474822, ClinGen CA351534405, NCI-TCGA Cosmic COSV5549, NCI-TCGA Cosmic COSV9985, REVEL 0.13, CADD 18.90, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype
- L45L (p.Leu45Leu), rs1205453844, gnomAD 3-14129534-C-G, CADD 8.41
- S46P (p.Ser46Pro), rs145510310, ClinGen CA051850, ClinVar RCV000227977, ESP rs145510310, REVEL 0.37, CADD 28.00, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype
- S46T (p.Ser46Thr), rs145510310, ClinGen CA351534409, ClinVar RCV001062775, ESP rs145510310, REVEL 0.15, CADD 23.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- F47S (p.Phe47Ser), rs1695065567, ClinGen CA351534418, ClinVar RCV004014197, TOPMed rs1695065567, AlphaMissense 0.41, MetaLR 0.13, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- F47del (p.Phe47del), rs756597745, gnomAD 3-14129536-CCTT-C, CADD 19.80
- Y48C (p.Tyr48Cys), rs1553602871, ClinGen CA351534427, ClinVar RCV003394398, ClinVar RCV005099992, AlphaMissense 0.15, MetaLR 0.13, Uncertain significance, not provided; TMEM43-related disorder; Arrhythmogenic right ventricular dysplasi
- Y48S (p.Tyr48Ser), rs1553602871, ClinGen CA351534426, ClinVar RCV000617325, ClinVar RCV001185558, AlphaMissense 0.15, MetaLR 0.13, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype; Cardiomy
- F51V (p.Phe51Val), gnomAD 3-14129550-T-G, REVEL 0.39, CADD 28.80
- F51F (p.Phe51Phe), rs1695065710, gnomAD 3-14129552-C-T, CADD 12.30
- T52I (p.Thr52Ile), gnomAD rs1410487829, REVEL 0.23, CADD 20.40
- T52P (p.Thr52Pro), Ensembl rs1559360066, REVEL 0.30, CADD 24.00
- T52T (p.Thr52Thr), rs1431651766, gnomAD 3-14129555-C-T, CADD 12.40
- N53S (p.Asn53Ser), gnomAD 3-14129557-A-G, REVEL 0.56, CADD 27.00
- E54D (p.Glu54Asp), rs746126153, ClinGen CA051939, ClinVar RCV001181195, ClinVar RCV003600403, REVEL 0.54, CADD 35.00, Uncertain significance, not provided; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- E54K (p.Glu54Lys), gnomAD 3-14129559-G-A, REVEL 0.64, CADD 28.60
- E54E (p.Glu54Glu), rs746126153, gnomAD 3-14129561-G-A, CADD 26.60
- G55D (p.Gly55Asp), rs201453637, ClinGen CA024614, ClinVar RCV000172114, ClinVar RCV000642435, REVEL 0.54, MetaLR 0.36, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- G55S (p.Gly55Ser), TOPMed rs1695083151, gnomAD rs1695083151, REVEL 0.53, MetaLR 0.32, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- G55G (p.Gly55Gly), rs1435344075, gnomAD 3-14130824-C-T, CADD 3.55
- R56C (p.Arg56Cys), rs201094625, ClinGen CA052036, ClinVar RCV000462660, ClinVar RCV000519195, REVEL 0.20, MetaLR 0.15, Conflicting interpretations, not specified; not provided; Cardiomyopathy
- R56H (p.Arg56His), rs747164382, ClinGen CA052046, ClinVar RCV001066708, ClinVar RCV001180226, REVEL 0.33, MetaLR 0.20, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5; Cardiomy
- R56R (p.Arg56Arg), rs768752495, gnomAD 3-14130827-C-T, CADD 0.09
- A57S (p.Ala57Ser), rs151010429, ClinGen CA052070, ClinVar RCV001191659, ClinVar RCV001359549, REVEL 0.26, MetaLR 0.11, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy
- A57T (p.Ala57Thr), rs151010429, ClinGen CA024618, ClinVar RCV000074479, ClinVar RCV000172115, REVEL 0.26, MetaLR 0.11, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 5; Auditory neuropathy, autosomal dom
- A57P (p.Ala57Pro), gnomAD 3-14130828-G-C, REVEL 0.36, MetaLR 0.23
- A57G (p.Ala57Gly), gnomAD 3-14130829-C-G, REVEL 0.23, MetaLR 0.11
- A57A (p.Ala57Ala), rs910412765, gnomAD 3-14130830-A-G, CADD 0.16
- L58W (p.Leu58Trp), rs2124986873, ClinGen CA351534499, ClinVar RCV003533508, Ensembl rs2124986873, AlphaMissense 0.52, MetaLR 0.19, Uncertain significance, Cardiomyopathy
- L58S (p.Leu58Ser), gnomAD 3-14130832-T-C, REVEL 0.23, MetaLR 0.13
- T60A (p.Thr60Ala), rs1695084121, ClinGen CA351534512, ClinVar RCV001875078, gnomAD rs1695084121, REVEL 0.15, MetaLR 0.18, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- T60M (p.Thr60Met), rs1362645227, ClinGen CA351534515, ClinVar RCV001057030, ClinVar RCV002400326, REVEL 0.25, MetaLR 0.14, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- T60S (p.Thr60Ser), rs1695084121, ClinGen CA351534511, ClinVar RCV001915715, gnomAD rs1695084121, REVEL 0.10, MetaLR 0.20, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- T60R (p.Thr60Arg), gnomAD 3-14130837-AC-A, CADD 29.30
- T60T (p.Thr60Thr), rs765703685, gnomAD 3-14130839-G-A, CADD 0.67, SIFT 0.00
- A61G (p.Ala61Gly), rs1225730180, ClinGen CA351534520, ClinVar RCV001190373, ClinVar RCV001773442, REVEL 0.18, MetaLR 0.24, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5; Auditory neuropathy, autosomal dom
- A61T (p.Ala61Thr), gnomAD rs1287476593, MetaLR 0.16, MetaSVM -0.84
- p.Ala61 Thr62del, gnomAD 3-14130836-GACGGC, CADD 18.80
- A61V (p.Ala61Val), gnomAD 3-14130841-C-T, REVEL 0.18, MetaLR 0.23
- A61A (p.Ala61Ala), gnomAD 3-14130842-A-C, CADD 2.35, SIFT 0.17
- T62A (p.Thr62Ala), rs1320848788, ClinGen CA351534523, NCI-TCGA Cosmic COSV1000, ClinVar RCV003533509, REVEL 0.07, MetaLR 0.05, Conflicting interpretations, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5; Cardiomy
- T62I (p.Thr62Ile), rs2470179237, ClinGen CA351534526, ClinVar RCV003533510, Uncertain significance, Cardiomyopathy
- T62T (p.Thr62Thr), rs773764939, gnomAD 3-14130845-C-G, CADD 1.75, SIFT 0.00
- S63S (p.Ser63Ser), gnomAD 3-14130848-A-T, CADD 1.96, SIFT 0.01
- L64M (p.Leu64Met), rs1695084400, ClinGen CA351534534, ClinVar RCV004009821, REVEL 0.60, MetaLR 0.55, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- L64W (p.Leu64Trp), ExAC rs763469415, gnomAD rs763469415, REVEL 0.79, MetaLR 0.58, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- A65P (p.Ala65Pro), NCI-TCGA Cosmic COSV6014, Variant assessed as somatic; moderate impact.
- A65S (p.Ala65Ser), rs1695084511, ClinGen CA351534542, ClinVar RCV001182436, Ensembl rs1695084511, AlphaMissense 0.08, MetaLR 0.07, Uncertain significance, Cardiomyopathy
- A65T (p.Ala65Thr), rs1695084511, ClinGen CA351534540, ClinVar RCV002012262, ClinVar RCV006367840, REVEL 0.04, AlphaMissense 0.08, Uncertain significance, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe
- E66G (p.Glu66Gly), Ensembl rs1574937290
- E66K (p.Glu66Lys), NCI-TCGA Cosmic COSV6014, MetaLR 0.24, MetaSVM -0.52, Variant assessed as somatic; moderate impact.
- G67A (p.Gly67Ala), ExAC rs766792876, TOPMed rs766792876, gnomAD rs766792876, Uncertain significance
- G67E (p.Gly67Glu), ExAC rs766792876, TOPMed rs766792876, gnomAD rs766792876, MetaLR 0.31, MetaSVM -0.39, Uncertain significance
- G67V (p.Gly67Val), rs766792876, ClinGen CA69728987, ClinVar RCV001361222, ClinVar RCV002420788, REVEL 0.52, MetaLR 0.30, Uncertain significance, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Auditory neuropath
- G67R (p.Gly67Arg), gnomAD 3-14130858-G-C, REVEL 0.52, MetaLR 0.31
- L68A (p.Leu68Ala), rs2470179437, ClinGen CA913188032, ClinVar RCV003887821, Likely pathogenic
- L68P (p.Leu68Pro), rs1553602940, ClinGen CA351534562, ClinVar RCV000642409, Ensembl rs1553602940, REVEL 0.49, MetaLR 0.27, Uncertain significance, Arrhythmogenic right ventricular dysplasia 5
- L68L (p.Leu68Leu), rs752403292, gnomAD 3-14130863-C-T, CADD 0.61
Public TMEM43 analysis runs
- TMEM43 analysis run — TMEM43 (758 variants) — completed 2026-06-26