LMNA (Prelamin-A/C) variants and mutations
LMNA (also known as Prelamin-A/C) is a human protein-coding gene encoding a prelamin-A/C protein. The gene product produces lamins A and C, structural proteins that form the nuclear lamina beneath the inner nuclear membrane. Lamins help maintain nuclear shape and organize chromatin, and LMNA variants are associated with muscular dystrophy, cardiomyopathy, lipodystrophy, and premature-aging syndromes. This analysis covers 1,553 LMNA variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, and familial partial lipodystrophy, Dunnigan type. Example LMNA variants include M1I, M1K, and M1L.
Variant analysis overview
- Gene: LMNA
- Protein: Prelamin-A/C
- UniProt accession: P02545
- Organism: Homo sapiens
- Variants analyzed: 1553
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 1,348 unspecified-consequence records; 102 missense variants; 84 synonymous variants; 6 frameshift variants; 1 in-frame insertions; 9 stop-gained variants; 1 splice-region variants; 2 substitution
- Prediction scores: 1,481 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, familial partial lipodystrophy, Dunnigan type, Hutchinson-Gilford progeria syndrome, congenital muscular dystrophy due to LMNA mutation, mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy, heart-hand syndrome, Slovenian type, Lethal restrictive dermopathy.
Protein structure and variant hotspots
- Protein features: 2 domains; 78 post-translational modification sites.
- Structural context: 1,094 variants have structural context.
- PTM context: 167 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, PharmGKB, MaveDB, LitVar.
Notable LMNA variants
Examples include M1I, M1K, M1L, M1V, E2*, E2G, E2K, E2Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs794728598, ClinGen CA018051, ClinVar RCV000182378, ClinVar RCV002515313, ESM-1b 1.00, AlphaMissense 0.91, Uncertain significance, not provided; Charcot-Marie-Tooth disease type 2; See cases
- M1K (p.Met1Lys), rs2527828780, ClinGen CA342805828, ClinVar RCV003217711, ClinVar RCV004719317, ESM-1b 1.00, AlphaMissense 0.89, Pathogenic, Cardiovascular phenotype; not provided
- M1L (p.Met1Leu), rs2102816719, ClinGen CA342805814, ClinVar RCV001390690, ESM-1b 1.00, AlphaMissense 0.41, Pathogenic, Charcot-Marie-Tooth disease type 2
- M1V (p.Met1Val), rs2102816719, ClinGen CA342805818, ClinVar RCV004524855, ESM-1b 1.00, AlphaMissense 0.29, Pathogenic, Cardiovascular phenotype
- E2* (p.Glu2Ter), rs1558115754, ClinGen CA342805855, ClinVar RCV000688289, ClinVar RCV002343440, Pathogenic
- E2G (p.Glu2Gly), Ensembl rs11549669, ESM-1b 0.00, AlphaMissense 0.33
- E2K (p.Glu2Lys), rs1558115754, ClinGen CA16021036, ClinVar RCV003358470, ESM-1b 0.28, AlphaMissense 0.85, Uncertain significance, Cardiovascular phenotype
- E2Q (p.Glu2Gln), gnomAD 1-156114922-G-C, REVEL 0.27, ESM-1b 0.00
- E2D (p.Glu2Asp), gnomAD 1-156114924-G-T, REVEL 0.22, ESM-1b 0.00
- E2E (p.Glu2Glu), rs896190740, gnomAD 1-156126218-G-A, CADD 17.50
- T3A (p.Thr3Ala), rs1183004393, ClinGen CA342805889, ClinVar RCV001900220, ClinVar RCV003130563, REVEL 0.57, ESM-1b 0.74, Uncertain significance, Charcot-Marie-Tooth disease type 2; not provided
- T3N (p.Thr3Asn), rs1235021953, ClinGen CA342805896, ClinVar RCV001181741, ClinVar RCV003769991, REVEL 0.51, ESM-1b 1.00, Uncertain significance, Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A; Primary dilated c
- T3S (p.Thr3Ser), TOPMed rs1235021953, gnomAD rs1235021953, REVEL 0.43, ESM-1b 0.00, Uncertain significance
- T3I (p.Thr3Ile), gnomAD 1-156114926-C-T, REVEL 0.74, ESM-1b 1.00
- T3T (p.Thr3Thr), gnomAD 1-156114927-C-A, CADD 13.70
- P4A (p.Pro4Ala), rs1477323839, ClinGen CA342805930, ClinVar RCV002284716, ClinVar RCV003101634, REVEL 0.40, ESM-1b 0.00, Uncertain significance, not provided; Charcot-Marie-Tooth disease type 2
- P4L (p.Pro4Leu), rs267607620, ClinGen CA342805944, ClinVar RCV001896572, ClinVar RCV004010788, REVEL 0.62, ESM-1b 0.67, Uncertain significance, Charcot-Marie-Tooth disease type 2; Primary dilated cardiomyopathy
- P4Q (p.Pro4Gln), rs267607620, ClinGen CA342805937, ClinVar RCV002010787, ClinVar RCV004990559, REVEL 0.54, ESM-1b 0.00, Conflicting interpretations, Heart-hand syndrome, Slovenian type; Charcot-Marie-Tooth disease type 2B1; Mandi
- P4R (p.Pro4Arg), rs267607620, ClinGen CA016863, ClinVar RCV000057257, ClinVar RCV000818990, REVEL 0.59, ESM-1b 0.00, Pathogenic, Charcot-Marie-Tooth disease type 2
- P4S (p.Pro4Ser), rs1477323839, ClinGen CA342805926, ClinVar RCV001367763, gnomAD rs1477323839, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- P4T (p.Pro4Thr), gnomAD rs1477323839, REVEL 0.51, ESM-1b 0.00, Uncertain significance
- P4P (p.Pro4Pro), rs369823958, gnomAD 1-156114930-G-A, CADD 16.80
- S5F (p.Ser5Phe), ExAC rs766624427, gnomAD rs766624427, REVEL 0.40, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- S5Y (p.Ser5Tyr), gnomAD 1-156114932-C-A, REVEL 0.37, ESM-1b 1.00
- S5S (p.Ser5Ser), gnomAD 1-156114933-C-A, CADD 15.60
- Q6* (p.Gln6Ter), rs61046466, ClinGen CA017675, ClinVar RCV000015564, ClinVar RCV000041328, Pathogenic
- Q6S (p.Gln6Ser), rs1649696391, gnomAD 1-156114931-TC-T, CADD 27.70
- Q6K (p.Gln6Lys), gnomAD 1-156114934-C-A, REVEL 0.44, ESM-1b 0.00
- Q6H (p.Gln6His), gnomAD 1-156114936-G-T, REVEL 0.49, ESM-1b 0.00
- Q6Q (p.Gln6Gln), rs1383536412, gnomAD 1-156114936-G-A, CADD 14.20
- R7Q (p.Arg7Gln), rs751916168, ClinGen CA052022, ClinVar RCV000476932, ClinVar RCV001181379, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2; not specified; Cardiomyopathy
- R7W (p.Arg7Trp), rs1397676761, ClinGen CA342805997, ClinVar RCV002019020, gnomAD rs1397676761, REVEL 0.50, ESM-1b 1.00, Uncertain significance, Charcot-Marie-Tooth disease type 2; not provided
- R7R (p.Arg7Arg), gnomAD 1-156114937-C-A, CADD 15.70
- R7L (p.Arg7Leu), gnomAD 1-156114938-G-T, REVEL 0.33, ESM-1b 0.55
- R8C (p.Arg8Cys), rs1649697783, ClinGen CA342806018, ClinVar RCV002003671, Ensembl rs1649697783, REVEL 0.59, ESM-1b 1.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- R8G (p.Arg8Gly), rs1649697783, ClinGen CA342806015, ClinVar RCV001345496, Ensembl rs1649697783, REVEL 0.52, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- R8H (p.Arg8His), rs1329278578, ClinGen CA342806023, ClinVar RCV001072091, ClinVar RCV002445371, REVEL 0.42, ESM-1b 0.31, Uncertain significance, Cardiovascular phenotype; Familial partial lipodystrophy, Dunnigan type; Congeni
- R8S (p.Arg8Ser), rs1649697783, ClinGen CA342806011, ClinVar RCV002810761, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- R8L (p.Arg8Leu), gnomAD 1-156114941-G-T, REVEL 0.55, ESM-1b 0.80
- R8R (p.Arg8Arg), rs1337375663, gnomAD 1-156114942-C-A, CADD 16.40
- A9P (p.Ala9Pro), rs2527829229, ClinGen CA342806042, ClinVar RCV003029877, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, Charcot-Marie-Tooth disease type 2
- A9T (p.Ala9Thr), rs2527829229, ClinGen CA342806038, ClinVar RCV003052963, ClinVar RCV003134603, REVEL 0.27, ESM-1b 0.00, Uncertain significance, not provided; Cardiomyopathy; Charcot-Marie-Tooth disease type 2
- A9S (p.Ala9Ser), gnomAD 1-156114943-G-T, REVEL 0.34, ESM-1b 0.00
- A9V (p.Ala9Val), gnomAD 1-156114944-C-T, REVEL 0.27, ESM-1b 0.00
- A9D (p.Ala9Asp), gnomAD 1-156114944-C-A, REVEL 0.47, ESM-1b 0.00
- A9A (p.Ala9Ala), gnomAD 1-156114945-C-A, CADD 16.20
- T10I (p.Thr10Ile), rs57077886, ClinGen CA017867, ClinVar RCV000015599, ClinVar RCV000057387, REVEL 0.54, ESM-1b 0.00, Pathogenic/Likely pathogenic, Inborn genetic diseases; not provided; Familial partial lipodystrophy, Dunnigan
- T10P (p.Thr10Pro), rs2527829303, ClinGen CA342806835, ClinVar RCV002650630, ESM-1b 0.00, AlphaMissense 0.07, Likely pathogenic, Charcot-Marie-Tooth disease type 2
- T10S (p.Thr10Ser), gnomAD 1-156114946-A-T, REVEL 0.23, ESM-1b 0.00
- T10N (p.Thr10Asn), gnomAD 1-156114947-C-A, REVEL 0.29, ESM-1b 0.00
- T10T (p.Thr10Thr), gnomAD 1-156114948-C-A, CADD 15.70
- R11C (p.Arg11Cys), rs755465323, ClinGen CA342806862, ClinVar RCV003311164, ClinVar RCV003745581, REVEL 0.59, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2
- R11G (p.Arg11Gly), ExAC rs755465323, TOPMed rs755465323, gnomAD rs755465323, REVEL 0.42, ESM-1b 0.00, Uncertain significance
- R11L (p.Arg11Leu), rs1649700040, ClinGen CA342806869, ClinVar RCV001313361, Ensembl rs1649700040, REVEL 0.64, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- R11S (p.Arg11Ser), gnomAD 1-156114949-C-A, REVEL 0.44, ESM-1b 0.00
- R11H (p.Arg11His), gnomAD 1-156114950-G-A, REVEL 0.42, ESM-1b 0.00
- R11R (p.Arg11Arg), gnomAD 1-156114951-C-T, CADD 13.40
- S12I (p.Ser12Ile), gnomAD 1-156114953-G-T, REVEL 0.53, ESM-1b 1.00
- S12R (p.Ser12Arg), gnomAD 1-156114954-C-A, REVEL 0.48, ESM-1b 0.00
- S12S (p.Ser12Ser), gnomAD 1-156114954-C-T, CADD 14.70
- G13A (p.Gly13Ala), ExAC rs781684338, gnomAD rs781684338, REVEL 0.42, ESM-1b 0.00, Uncertain significance, Primary dilated cardiomyopathy
- G13E (p.Gly13Glu), cosmic curated COSV10465, ExAC rs781684338, gnomAD rs781684338, REVEL 0.61, ESM-1b 0.00
- G13R (p.Gly13Arg), rs1649700208, ClinGen CA342806921, ClinVar RCV001170448, Ensembl rs1649700208, REVEL 0.49, ESM-1b 0.00, Uncertain significance, Cardiomyopathy
- G13W (p.Gly13Trp), gnomAD 1-156114955-G-T, REVEL 0.56, ESM-1b 1.00
- G13V (p.Gly13Val), gnomAD 1-156114956-G-T, REVEL 0.55, ESM-1b 0.00
- G13G (p.Gly13Gly), gnomAD 1-156114957-G-T, CADD 15.60
- G13C (p.Gly13Cys), gnomAD 1-156126219-G-T, REVEL 0.28, AlphaMissense 0.08
- A14E (p.Ala14Glu), rs1256334293, ClinGen CA342806964, ClinVar RCV001663671, TOPMed rs1256334293, REVEL 0.54, ESM-1b 0.00, Uncertain significance, not provided
- A14R (p.Ala14Arg), rs2527829451, ClinGen CA2648345519, ClinVar RCV003744526, Pathogenic
- A14T (p.Ala14Thr), rs755617982, ClinGen CA053373, ClinVar RCV002577738, ExAC rs755617982, REVEL 0.38, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2; Cardiomyopathy
- A14V (p.Ala14Val), TOPMed rs1256334293, gnomAD rs1256334293, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Dilated cardiomyopathy
- A14S (p.Ala14Ser), gnomAD 1-156114958-G-T, REVEL 0.18, ESM-1b 0.00
- A14A (p.Ala14Ala), rs777460187, gnomAD 1-156114960-G-A, CADD 17.20
- Q15* (p.Gln15Ter), rs2102817088, ClinGen CA342806990, ClinVar RCV001949326, Ensembl rs2102817088, CADD 36.00, Pathogenic
- Q15P (p.Gln15Pro), rs748918487, ClinGen CA053465, ClinVar RCV001341373, ClinVar RCV004808019, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2
- Q15K (p.Gln15Lys), gnomAD 1-156114961-C-A, REVEL 0.19, ESM-1b 0.00
- p.Gln15 Ala16insGlu, rs751431601, gnomAD 1-156114961-C-CAG, CADD 21.40
- Q15R (p.Gln15Arg), gnomAD 1-156114962-A-G, REVEL 0.16, ESM-1b 0.00
- Q15L (p.Gln15Leu), gnomAD 1-156114962-A-T, REVEL 0.17, ESM-1b 0.00
- Q15Q (p.Gln15Gln), rs1450298270, gnomAD 1-156114963-G-A, CADD 15.90
- Q15H (p.Gln15His), gnomAD 1-156114963-G-T, REVEL 0.15, ESM-1b 0.00
- A16D (p.Ala16Asp), rs770799870, ClinGen CA053561, ClinVar RCV002042071, ClinVar RCV002489934, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Primary dilated cardiomyopathy; Charcot-Marie-Tooth di
- A16S (p.Ala16Ser), rs868507025, ClinGen CA30999057, ClinVar RCV004016610, Ensembl rs868507025, REVEL 0.11, ESM-1b 0.00, Uncertain significance, Primary dilated cardiomyopathy
- A16V (p.Ala16Val), rs770799870, ClinGen CA342807040, ClinVar RCV003744450, ExAC rs770799870, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- A16T (p.Ala16Thr), gnomAD 1-156114964-G-A, REVEL 0.23, ESM-1b 0.00
- A16G (p.Ala16Gly), gnomAD 1-156114965-C-G, REVEL 0.17, ESM-1b 0.00
- A16A (p.Ala16Ala), gnomAD 1-156114966-C-A, CADD 16.70
- S17I (p.Ser17Ile), cosmic curated COSV10590, REVEL 0.26, ESM-1b 0.75
- S17N (p.Ser17Asn), TOPMed rs1649702619, REVEL 0.22, ESM-1b 0.00
- S17R (p.Ser17Arg), 1000Genomes rs11549668, ESP rs11549668, ExAC rs11549668, TOPMed rs11549668, REVEL 0.31, ESM-1b 0.00, Benign
- S17A (p.Ser17Ala), rs794726921, gnomAD 1-156114964-GC-G, CADD 25.80
- S17G (p.Ser17Gly), gnomAD 1-156114967-A-G, REVEL 0.21, ESM-1b 0.00
- S17S (p.Ser17Ser), rs11549668, gnomAD 1-156114969-C-T, CADD 14.30
- S18T (p.Ser18Thr), gnomAD 1-156114970-T-A, REVEL 0.18, ESM-1b 0.00
- S18F (p.Ser18Phe), gnomAD 1-156114971-C-T, REVEL 0.60, ESM-1b 1.00
- S18Y (p.Ser18Tyr), gnomAD 1-156114971-C-A, REVEL 0.49, ESM-1b 1.00
- S18C (p.Ser18Cys), gnomAD 1-156114971-C-G, REVEL 0.53, ESM-1b 1.00
- S18S (p.Ser18Ser), gnomAD 1-156114972-C-A, CADD 14.20
- T19I (p.Thr19Ile), gnomAD rs1200971610, REVEL 0.51, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- T19S (p.Thr19Ser), rs2527829852, ClinGen CA342807111, ClinVar RCV003829804, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- T19P (p.Thr19Pro), gnomAD 1-156114973-A-C, REVEL 0.66, ESM-1b 0.03
- T19N (p.Thr19Asn), gnomAD 1-156114974-C-A, REVEL 0.30, ESM-1b 1.00
- T19T (p.Thr19Thr), gnomAD 1-156114975-T-A, CADD 12.90
- P20L (p.Pro20Leu), rs1553261858, ClinGen CA342807133, ClinVar RCV000626229, ClinVar RCV003581701, REVEL 0.55, ESM-1b 1.00, Conflicting interpretations, Congenital muscular dystrophy due to LMNA mutation; Charcot-Marie-Tooth disease
- P20S (p.Pro20Ser), rs2527829907, ClinGen CA342807129, ClinVar RCV004014763, ClinVar RCV004994419, REVEL 0.40, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Primary dilated cardiomyopathy
- P20A (p.Pro20Ala), gnomAD 1-156114976-C-G, REVEL 0.33, ESM-1b 1.00
- P20T (p.Pro20Thr), gnomAD 1-156114976-C-A, REVEL 0.45, ESM-1b 1.00
- P20Q (p.Pro20Gln), gnomAD 1-156114977-C-A, REVEL 0.53, ESM-1b 1.00
- P20P (p.Pro20Pro), rs1572331889, gnomAD 1-156114978-G-A, CADD 14.80
- L21M (p.Leu21Met), Ensembl rs866007080, REVEL 0.43, ESM-1b 1.00
- L21P (p.Leu21Pro), rs1649704361, ClinGen CA342807160, ClinVar RCV001090180, ClinVar RCV002298871, REVEL 0.73, ESM-1b 1.00, Uncertain significance, Severe muscular hypotonia; Developmental regression; Relative macrocephaly
- L21L (p.Leu21Leu), gnomAD 1-156114981-G-T, CADD 13.70
- L21F (p.Leu21Phe), gnomAD 1-156126823-G-T, REVEL 0.12, CADD 9.18
- S22A (p.Ser22Ala), rs794728599, ClinGen CA018394, ClinVar RCV000182379, Ensembl rs794728599, ESM-1b 1.00, AlphaMissense 0.82, Uncertain significance, not provided
- S22L (p.Ser22Leu), rs1016767319, ClinGen CA30999069, cosmic curated COSV10742, ClinVar RCV000712226, REVEL 0.82, ESM-1b 1.00, Conflicting interpretations, Charcot-Marie-Tooth disease type 2; not provided; Dilated cardiomyopathy 1A
- S22P (p.Ser22Pro), gnomAD 1-156114982-T-C, REVEL 0.85, ESM-1b 1.00
- S22* (p.Ser22Ter), gnomAD 1-156114983-C-A, CADD 36.00
- S22S (p.Ser22Ser), rs886043729, gnomAD 1-156114984-G-T, CADD 13.70
- P23L (p.Pro23Leu), gnomAD rs1420908351, ESM-1b 1.00, AlphaMissense 0.98
- P23S (p.Pro23Ser), cosmic curated COSV10590, REVEL 0.63, ESM-1b 1.00
- P23T (p.Pro23Thr), cosmic curated COSV10888, REVEL 0.63, ESM-1b 1.00
- P23A (p.Pro23Ala), gnomAD 1-156114985-C-G, REVEL 0.63, ESM-1b 1.00
- P23H (p.Pro23His), gnomAD 1-156114986-C-A, REVEL 0.69, ESM-1b 1.00
- P23P (p.Pro23Pro), gnomAD 1-156114987-C-A, CADD 15.20
- T24A (p.Thr24Ala), gnomAD rs1461165954, REVEL 0.24, ESM-1b 1.00
- T24I (p.Thr24Ile), rs1195524446, ClinGen CA342807236, ClinVar RCV001529465, ClinVar RCV002495854, REVEL 0.43, ESM-1b 1.00, Uncertain significance, Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2B1; Mandibuloa
- T24S (p.Thr24Ser), rs1195524446, ClinGen CA342807231, ClinVar RCV000798982, ClinVar RCV002370101, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Charcot-Marie-Tooth disease type 2
- T24N (p.Thr24Asn), gnomAD 1-156114989-C-A, REVEL 0.35, ESM-1b 1.00
- T24T (p.Thr24Thr), rs1572331957, gnomAD 1-156114990-C-T, CADD 12.30
- R25C (p.Arg25Cys), rs58327533, ClinGen CA018538, ClinVar RCV000057450, ClinVar RCV001049614, REVEL 0.89, ESM-1b 1.00, Likely pathogenic, Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Dilated cardiomyop
- R25G (p.Arg25Gly), rs58327533, ClinGen CA018531, ClinVar RCV000057449, ClinVar RCV001048135, REVEL 0.92, ESM-1b 1.00, Pathogenic/Likely pathogenic, Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided
- R25H (p.Arg25His), rs61578124, ClinGen CA342807260, ClinVar RCV003582949, REVEL 0.82, ESM-1b 1.00, Likely pathogenic, Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2
- R25L (p.Arg25Leu), rs61578124, ClinGen CA054268, ClinVar RCV000236179, ClinVar RCV001079756, REVEL 0.87, ESM-1b 1.00, Conflicting interpretations, Cardiovascular phenotype; Congenital muscular dystrophy due to LMNA mutation; Ma
- R25P (p.Arg25Pro), rs61578124, ClinGen CA018579, ClinVar RCV000057454, ClinVar RCV002513740, ESM-1b 1.00, AlphaMissense 0.99, Likely pathogenic, Charcot-Marie-Tooth disease type 2
- R25S (p.Arg25Ser), gnomAD 1-156114991-C-A, REVEL 0.90, ESM-1b 1.00
- R25R (p.Arg25Arg), gnomAD 1-156114993-C-A, CADD 12.30
- I26L (p.Ile26Leu), rs1302425397, ClinGen CA342807269, ClinVar RCV003532550, gnomAD rs1302425397, REVEL 0.40, ESM-1b 0.91, Uncertain significance, Cardiomyopathy
- I26T (p.Ile26Thr), rs794728600, ClinGen CA018621, ClinVar RCV000182380, ClinVar RCV004992063, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, not provided; Cardiovascular phenotype
- I26V (p.Ile26Val), rs1302425397, ClinGen CA342807270, ClinVar RCV002300019, gnomAD rs1302425397, ESM-1b 0.01, AlphaMissense 0.68, Uncertain significance, Charcot-Marie-Tooth disease type 2
- I26I (p.Ile26Ile), gnomAD 1-156114996-C-A, CADD 14.70
- T27I (p.Thr27Ile), rs863225270, ClinGen CA342807313, cosmic curated COSV61542, ClinVar RCV000991275, ESM-1b 1.00, AlphaMissense 1.00, Likely pathogenic, Congenital muscular dystrophy due to LMNA mutation; Dilated cardiomyopathy 1A; C
- T27S (p.Thr27Ser), rs863225270, ClinGen CA279587, ClinVar RCV000201884, ClinVar RCV002517317, REVEL 0.76, ESM-1b 0.00, Uncertain significance, Paroxysmal familial ventricular fibrillation; Charcot-Marie-Tooth disease type 2
- T27A (p.Thr27Ala), gnomAD 1-156114997-A-G, REVEL 0.53, ESM-1b 0.62
- T27T (p.Thr27Thr), rs1406760311, gnomAD 1-156114999-C-T, CADD 15.00
- R28G (p.Arg28Gly), rs59914820, ClinGen CA358140, ClinVar RCV000210645, gnomAD rs59914820, REVEL 0.73, ESM-1b 1.00, Likely pathogenic, Inborn genetic diseases
- R28Q (p.Arg28Gln), rs886043109, ClinGen CA10605120, ClinVar RCV000380269, ClinVar RCV000809047, ESM-1b 1.00, AlphaMissense 1.00, Pathogenic/Likely pathogenic, Charcot-Marie-Tooth disease type 2; not provided; Emery-Dreifuss muscular dystro
- R28W (p.Arg28Trp), rs59914820, ClinGen CA018743, ClinVar RCV000057473, ClinVar RCV000653924, REVEL 0.82, ESM-1b 1.00, Pathogenic/Likely pathogenic, Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2
- R28R (p.Arg28Arg), gnomAD 1-156115000-C-A, CADD 15.10
- R28L (p.Arg28Leu), gnomAD 1-156115001-G-T, REVEL 0.87, ESM-1b 1.00
- L29M (p.Leu29Met), TOPMed rs1038281766, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- L29C (p.Leu29Cys), gnomAD 1-156115000-CG-C, CADD 32.00
- L29L (p.Leu29Leu), gnomAD 1-156115005-G-T, CADD 14.00
- Q30E (p.Gln30Glu), rs2102817413, ClinGen CA342807364, ClinVar RCV001968068, Ensembl rs2102817413, ESM-1b 1.00, AlphaMissense 0.60, Uncertain significance, Charcot-Marie-Tooth disease type 2
- Q30P (p.Gln30Pro), rs2527830531, ClinGen CA342807380, ClinVar RCV003140303, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, Congenital muscular dystrophy due to LMNA mutation
- Q30K (p.Gln30Lys), gnomAD 1-156115006-C-A, REVEL 0.73, ESM-1b 1.00
- Q30* (p.Gln30Ter), gnomAD 1-156115006-C-T, CADD 36.00
- Q30L (p.Gln30Leu), gnomAD 1-156115007-A-T, REVEL 0.75, ESM-1b 1.00
- Q30Q (p.Gln30Gln), rs1325971304, gnomAD 1-156115008-G-A, CADD 14.50
- E31G (p.Glu31Gly), rs1649709575, ClinGen CA342807411, ClinVar RCV001214508, Ensembl rs1649709575, REVEL 0.96, ESM-1b 1.00, Pathogenic, Charcot-Marie-Tooth disease type 2
- E31K (p.Glu31Lys), rs1228406418, ClinGen CA342807397, NCI-TCGA Cosmic COSV6154, cosmic curated COSV61544, ESM-1b 1.00, AlphaMissense 1.00, Pathogenic, not provided; Charcot-Marie-Tooth disease type 2
- E31R (p.Glu31Arg), rs2102817441, ClinGen CA2573131089, ClinVar RCV002026578, Ensembl rs2102817441, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, Charcot-Marie-Tooth disease type 2
- E31* (p.Glu31Ter), gnomAD 1-156115009-G-T, CADD 38.00
- E31D (p.Glu31Asp), gnomAD 1-156115011-G-T, REVEL 0.96, ESM-1b 1.00
- E31E (p.Glu31Glu), rs878855235, gnomAD 1-156115011-G-A, CADD 15.90
- K32* (p.Lys32Ter), rs1553261891, ClinGen CA342807427, ClinVar RCV000812291, ClinVar RCV004789213, Pathogenic, in EDMD2
- K32E (p.Lys32Glu), rs1553261891, ClinGen CA342807424, ClinVar RCV000529491, ClinVar RCV000785916, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, Charcot-Marie-Tooth disease type 2; Congenital muscular dystrophy due to LMNA mu
- K32T (p.Lys32Thr), rs2527830691, ClinGen CA342807435, ClinVar RCV003326722, ESM-1b 1.00, AlphaMissense 0.99, Pathogenic, Congenital muscular dystrophy due to LMNA mutation
- K32K (p.Lys32Lys), rs775429079, gnomAD 1-156115014-G-A, CADD 15.70
- E33D (p.Glu33Asp), rs57966821, ClinGen CA018946, ClinVar RCV000057497, Ensembl rs57966821, REVEL 0.57, ESM-1b 0.52, Conflicting interpretations, not provided
- E33G (p.Glu33Gly), rs267607614, ClinGen CA018931, ClinVar RCV000057495, ClinVar RCV002513742, REVEL 0.91, ESM-1b 0.00, Conflicting interpretations, Charcot-Marie-Tooth disease type 2; not specified
- E33Q (p.Glu33Gln), rs2527830747, ClinGen CA342807465, ClinVar RCV002926889, ESM-1b 0.00, AlphaMissense 0.31, Uncertain significance, Charcot-Marie-Tooth disease type 2
- E33K (p.Glu33Lys), gnomAD 1-156115015-G-A, REVEL 0.70, ESM-1b 0.00
- E33V (p.Glu33Val), gnomAD 1-156115016-A-T, REVEL 0.80, ESM-1b 0.00
- D34N (p.Asp34Asn), rs886042491, ClinGen CA10604308, ClinVar RCV000278648, Ensembl rs886042491, ESM-1b 1.00, AlphaMissense 0.75, Uncertain significance, not provided
- D34Y (p.Asp34Tyr), gnomAD 1-156115018-G-T, REVEL 0.92, ESM-1b 1.00
- D34G (p.Asp34Gly), gnomAD 1-156115019-A-G, REVEL 0.84, ESM-1b 1.00
- L35P (p.Leu35Pro), rs267607644, ClinGen CA016503, ClinVar RCV000057221, ClinVar RCV000499410, REVEL 0.93, ESM-1b 1.00, Conflicting interpretations, not provided; Muscular dystrophy; Charcot-Marie-Tooth disease type 2
- L35Q (p.Leu35Gln), rs267607644, ClinGen CA342807536, ClinVar RCV003140259, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Congenital muscular dystrophy due to LMNA mutation
- L35V (p.Leu35Val), rs56694480, ClinGen CA016462, ClinVar RCV000057217, UniProt VAR 039752, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, Charcot-Marie-Tooth disease type 2
- L35L (p.Leu35Leu), gnomAD 1-156115021-C-T, CADD 16.20
Public LMNA analysis runs
- LMNA analysis run — LMNA (1,553 variants) — completed 2026-05-15