MYH7 (Myosin-7) variants and mutations
MYH7 (also known as Myosin-7) is a human protein-coding gene encoding a myosin-7 protein. Its beta-myosin motor converts ATP hydrolysis into force within cardiac and slow-skeletal-muscle sarcomeres. Pathogenic variants are major causes of hypertrophic and dilated cardiomyopathy and can also produce inherited skeletal myopathies. This analysis covers 3,534 MYH7 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy, congenital myopathy 7A, myosin storage, autosomal dominant, and left ventricular noncompaction. Example MYH7 variants include M1T, M1V, and G2A.
Variant analysis overview
- Gene: MYH7
- Protein: Myosin-7
- UniProt accession: P12883
- Organism: Homo sapiens
- Variants analyzed: 3534
- Variant scope: all variants
- Completed: 2026-10-26
Variant and mutation evidence
- Variant composition: 3,568 unspecified-consequence records; 1 stop retained variant; 5 in-frame deletions; 1 stop lost; 82 missense variants; 101 synonymous variants; 8 splice-region variants; 11 frameshift variants; 4 stop-gained variants; 3 substitution
- Prediction scores: 3,423 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy, congenital myopathy 7A, myosin storage, autosomal dominant, left ventricular noncompaction, MYH7-related skeletal myopathy, cardiomyopathy, hypertrophic cardiomyopathy 1, dilated cardiomyopathy, familial isolated dilated cardiomyopathy, myopathy, myosin storage, autosomal recessive, myopathy, left ventricular noncompaction 5, hyaline body myopathy.
Protein structure and variant hotspots
- Protein features: 3 domains; 1 binding sites; 9 post-translational modification sites.
- Structural context: 1,376 variants have structural context.
- PTM context: 7 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.
Diseases linked to MYH7
- Hypertrophic cardiomyopathy genes and variants
- Dilated cardiomyopathy genes and variants
- Primary dilated cardiomyopathy genes and variants
- Familial restrictive cardiomyopathy genes and variants
- Primary familial hypertrophic cardiomyopathy genes and variants
- Hyaline body myopathy genes and variants
- Left ventricular noncompaction genes and variants
- Primary familial dilated cardiomyopathy genes and variants
- Familial cardiomyopathy genes and variants
- Laing early-onset distal myopathy genes and variants
- Fiber-type disproportion myopathy genes and variants
- Myopathy, myosin storage, autosomal recessive genes and variants
Notable MYH7 variants
Examples include M1T, M1V, G2A, D3A, D3E, S4L, S4P, S4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs2502323077, ClinGen CA389054261, ClinVar RCV004527968, ClinVar RCV004780548, REVEL 0.80, ESM-1b 0.75, Uncertain significance, MYH7-related disorder; not provided
- M1V (p.Met1Val), rs139250539, ClinGen CA257826994, ClinVar RCV001071024, ClinVar RCV003372983, REVEL 0.81, ESM-1b 0.21, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- G2A (p.Gly2Ala), rs2502323072, ClinGen CA389054252, NCI-TCGA Cosmic COSV6252, ClinVar RCV003749312, Uncertain significance
- D3A (p.Asp3Ala), rs3729993, UniProt VAR 029430, Ensembl rs3729993, REVEL 0.55, ESM-1b 0.00
- D3E (p.Asp3Glu), rs1893043424, ClinGen CA389054238, ClinVar RCV001303919, ClinVar RCV002486174, REVEL 0.34, ESM-1b 0.00, Uncertain significance, Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congenital myopathy wi
- S4L (p.Ser4Leu), rs758659692, ClinGen CA027806, NCI-TCGA Cosmic COSV6252, ClinVar RCV000435665, REVEL 0.56, ESM-1b 0.00, Uncertain significance, MYH7-related disorder; Cardiovascular phenotype; not specified
- S4P (p.Ser4Pro), rs1416852795, ClinGen CA389054236, ClinVar RCV003301215, ClinVar RCV006472239, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy; Cardiovascular phenotype
- S4T (p.Ser4Thr), rs1416852795, ClinGen CA389054235, ClinVar RCV004010049, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Cardiomyopathy
- S4W (p.Ser4Trp), rs758659692, ClinGen CA389054232, ClinVar RCV000628862, ExAC rs758659692, REVEL 0.43, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- E5D (p.Glu5Asp), rs1223890089, ClinGen CA389054221, ClinVar RCV001062363, gnomAD rs1223890089, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- E5K (p.Glu5Lys), Ensembl rs2138687122, REVEL 0.44, ESM-1b 1.00
- M6T (p.Met6Thr), rs779276614, ClinGen CA029407, ClinVar RCV001246915, ClinVar RCV001788432, REVEL 0.76, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy; Cardiomyopathy; Dilated cardiomyopathy 1S
- A7G (p.Ala7Gly), Ensembl rs1595091581, REVEL 0.29, ESM-1b 0.61
- A7T (p.Ala7Thr), rs2502322986, ClinGen CA389054197, ClinVar RCV002417094, ClinVar RCV004808329, REVEL 0.23, ESM-1b 0.94, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype
- V8A (p.Val8Ala), Ensembl rs2138687081, REVEL 0.19, ESM-1b 0.00, Uncertain significance, Cardiomyopathy
- V8I (p.Val8Ile), rs754388460, ClinGen CA032179, ClinVar RCV000617948, ClinVar RCV001185759, REVEL 0.14, ESM-1b 0.00, Conflicting interpretations, not specified; Cardiomyopathy; Cardiovascular phenotype
- V8L (p.Val8Leu), rs754388460, ClinGen CA032191, ClinVar RCV003080383, ExAC rs754388460, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- G10A (p.Gly10Ala), rs730880826, ClinGen CA013294, ClinVar RCV000158720, ClinVar RCV001366152, REVEL 0.73, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- G10R (p.Gly10Arg), rs199577321, ClinGen CA013184, ClinVar RCV000156860, ClinVar RCV001171227, REVEL 0.86, ESM-1b 1.00, Uncertain significance, not specified; not provided; Cardiomyopathy
- G10C (p.Gly10Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A13T (p.Ala13Thr), rs759231966, ClinGen CA038963, NCI-TCGA Cosmic COSV6251, ClinVar RCV001062631, REVEL 0.69, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; not provided; Cardiomyopathy
- P14H (p.Pro14His), rs766301164, ClinGen CA389054125, ClinVar RCV001525779, ClinVar RCV005416541, REVEL 0.56, ESM-1b 1.00, Uncertain significance, not provided; Cardiomyopathy; Hypertrophic cardiomyopathy
- P14L (p.Pro14Leu), ExAC rs766301164, gnomAD rs766301164, REVEL 0.43, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- P14R (p.Pro14Arg), ExAC rs766301164, gnomAD rs766301164, REVEL 0.41, ESM-1b 1.00, Uncertain significance
- Y15C (p.Tyr15Cys), rs1410564846, NCI-TCGA Cosmic COSV6252, gnomAD rs1410564846, REVEL 0.50, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- Y15H (p.Tyr15His), TOPMed rs1893041292, REVEL 0.70, ESM-1b 1.00
- L16P (p.Leu16Pro), rs1893041022, ClinGen CA389054103, ClinVar RCV001202769, Ensembl rs1893041022, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- R17C (p.Arg17Cys), rs45511396, ClinGen CA015539, ClinVar RCV000035944, ClinVar RCV001188090, REVEL 0.71, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; not specified; Myosin storage myopathy
- R17H (p.Arg17His), rs727503280, ClinGen CA015673, ClinVar RCV000151316, ClinVar RCV001093026, REVEL 0.79, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; not specified
- R17S (p.Arg17Ser), rs45511396, ClinGen CA389054099, ClinVar RCV004012403, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- K18E (p.Lys18Glu), rs730880827, ClinGen CA015880, ClinVar RCV000158721, ClinVar RCV002516386, REVEL 0.53, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy; not provided
- K18N (p.Lys18Asn), ExAC rs762822176, TOPMed rs762822176, gnomAD rs762822176, REVEL 0.51, ESM-1b 1.00
- K18Q (p.Lys18Gln), rs730880827, ClinGen CA389054093, ClinVar RCV004013045, REVEL 0.35, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- S19* (p.Ser19Ter), TOPMed rs1478491841
- E20G (p.Glu20Gly), rs2502322776, ClinGen CA389054067, ClinVar RCV003301219, REVEL 0.68, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- R23Q (p.Arg23Gln), rs1169518192, ClinGen CA389054029, ClinVar RCV001920341, ClinVar RCV002490261, REVEL 0.51, ESM-1b 0.82, Uncertain significance, Cardiomyopathy; Myopathy, myosin storage, autosomal recessive; Congenital myopat
- R23W (p.Arg23Trp), rs730880828, ClinGen CA016626, NCI-TCGA Cosmic COSV1008, NCI-TCGA Cosmic COSV6251, REVEL 0.78, ESM-1b 1.00, Uncertain significance, Myosin storage myopathy; MYH7-related skeletal myopathy; Hypertrophic cardiomyop
- L24V (p.Leu24Val), rs1085307708, ClinGen CA389054021, ClinVar RCV000489352, TOPMed rs1085307708, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- E25D (p.Glu25Asp), TOPMed rs1893039483, REVEL 0.30, ESM-1b 0.00
- E25K (p.Glu25Lys), ExAC rs747976769, gnomAD rs747976769, REVEL 0.49, ESM-1b 1.00
- A26T (p.Ala26Thr), rs775643803, ClinGen CA049057, ClinVar RCV001300552, ClinVar RCV002486159, REVEL 0.52, ESM-1b 0.51, Uncertain significance, Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congenital myopathy wi
- A26V (p.Ala26Val), rs186964570, ClinGen CA016817, ClinVar RCV000036003, ClinVar RCV000148713, REVEL 0.57, ESM-1b 1.00, Benign, Hypertrophic cardiomyopathy
- Q27H (p.Gln27His), Ensembl rs1893039007, REVEL 0.48, ESM-1b 1.00
- Q27R (p.Gln27Arg), rs878853843, ClinGen CA10583175, ClinVar RCV000229274, ClinVar RCV002417989, REVEL 0.37, ESM-1b 1.00, Uncertain significance, MYH7-related skeletal myopathy; Dilated cardiomyopathy 1S; Myopathy, myosin stor
- R29K (p.Arg29Lys), Ensembl rs1893038687, REVEL 0.20, ESM-1b 0.00
- R29S (p.Arg29Ser), Ensembl rs2138686842, REVEL 0.42, ESM-1b 0.00
- P30A (p.Pro30Ala), rs1016438334, ClinGen CA389053963, ClinVar RCV001963886, ClinVar RCV004011005, REVEL 0.26, ESM-1b 0.59, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- P30L (p.Pro30Leu), rs1595091475, ClinGen CA389053958, ClinVar RCV000794189, Ensembl rs1595091475, REVEL 0.38, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- P30S (p.Pro30Ser), rs1016438334, ClinGen CA389053962, ClinVar RCV001177249, ClinVar RCV001773420, REVEL 0.36, ESM-1b 0.94, Uncertain significance, not provided; Cardiomyopathy
- P30T (p.Pro30Thr), rs1016438334, ClinGen CA257826921, ClinVar RCV002756167, ClinVar RCV004808369, REVEL 0.35, ESM-1b 0.66, Uncertain significance, Cardiomyopathy; not specified; Hypertrophic cardiomyopathy
- F31L (p.Phe31Leu), rs757655773, ClinGen CA049702, ClinVar RCV002020759, ClinVar RCV006434502, REVEL 0.68, ESM-1b 1.00, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- F31S (p.Phe31Ser), gnomAD rs1893038174, REVEL 0.90, ESM-1b 1.00
- D32N (p.Asp32Asn), rs2138686791, ClinGen CA389053938, ClinVar RCV001524308, Ensembl rs2138686791, REVEL 0.47, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- K34R (p.Lys34Arg), Ensembl rs2138686780, REVEL 0.41, ESM-1b 1.00
- D36V (p.Asp36Val), TOPMed rs1893037846, REVEL 0.23, ESM-1b 0.88
- V37I (p.Val37Ile), rs2502322556, ClinGen CA389053880, ClinVar RCV002450615, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- F38L (p.Phe38Leu), TOPMed rs1893037662, gnomAD rs1893037662, REVEL 0.78, ESM-1b 1.00
- F38S (p.Phe38Ser), rs2502322542, ClinGen CA389053866, ClinVar RCV003040883, REVEL 0.74, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- V39G (p.Val39Gly), rs2138686733, ClinGen CA389053856, ClinVar RCV001774839, Ensembl rs2138686733, REVEL 0.98, ESM-1b 1.00, Uncertain significance, not provided
- V39M (p.Val39Met), rs376160714, ClinGen CA010307, ClinVar RCV000035703, ClinVar RCV000148712, REVEL 0.83, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- P40A (p.Pro40Ala), TOPMed rs1893037347, gnomAD rs1893037347, REVEL 0.46, ESM-1b 0.00, Uncertain significance
- P40S (p.Pro40Ser), rs1893037347, ClinGen CA389053848, ClinVar RCV001979598, ClinVar RCV003128837, REVEL 0.57, ESM-1b 0.04, Uncertain significance, MYH7-related disorder; Cardiomyopathy; not provided
- D41N (p.Asp41Asn), rs1157169154, ClinGen CA389053839, ClinVar RCV001036517, ClinVar RCV001699501, REVEL 0.62, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; not provided; Hypertrophic cardiomyopathy
- D41Y (p.Asp41Tyr), rs1157169154, ClinVar RCV004575882, ClinVar RCV005250340, REVEL 0.77, ESM-1b 1.00, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- D42N (p.Asp42Asn), rs780785242, ClinGen CA027886, ClinVar RCV001190030, ClinVar RCV002484038, REVEL 0.30, ESM-1b 0.00, Conflicting interpretations, Myopathy, myosin storage, autosomal recessive; Dilated cardiomyopathy 1S; Congen
- Q44* (p.Gln44Ter), rs730880829, ClinGen CA010506, ClinVar RCV000158724, Ensembl rs730880829, AlphaMissense 0.05, MetaLR 0.08, Uncertain significance
- Q44E (p.Gln44Glu), Ensembl rs730880829, REVEL 0.12, ESM-1b 0.00, Uncertain significance
- E45D (p.Glu45Asp), rs397516102, ClinGen CA010647, ClinVar RCV000035719, gnomAD rs397516102, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy
- E45G (p.Glu45Gly), rs864622383, ClinGen CA350127, ClinVar RCV000206071, Ensembl rs864622383, REVEL 0.33, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- E45K (p.Glu45Lys), rs2502322469, ClinGen CA389053795, ClinVar RCV003748619, REVEL 0.48, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- F46C (p.Phe46Cys), rs397516104, ClinGen CA010662, ClinVar RCV000035721, ClinVar RCV000770505, REVEL 0.72, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; not specified
- F46I (p.Phe46Ile), rs1893036458, ClinGen CA389053785, ClinVar RCV001171225, Ensembl rs1893036458, REVEL 0.73, ESM-1b 1.00, Uncertain significance, Myopathy, myosin storage, autosomal recessive; MYH7-related skeletal myopathy; M
- F46L (p.Phe46Leu), rs1893036458, ClinGen CA389053784, ClinVar RCV002045919, ClinVar RCV004011146, REVEL 0.55, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- F46Y (p.Phe46Tyr), rs397516104, ClinGen CA389053779, ClinVar RCV002781115, TOPMed rs397516104, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- V47A (p.Val47Ala), TOPMed rs1595091435, REVEL 0.64, ESM-1b 1.00, Uncertain significance
- V47D (p.Val47Asp), rs1595091435, ClinGen CA389053770, ClinVar RCV004015297, ClinVar RCV006564643, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy; Cardiomyopathy
- A49S (p.Ala49Ser), TOPMed rs1893035652, REVEL 0.44, ESM-1b 0.50
- I51T (p.Ile51Thr), rs1893035421, ClinGen CA389053728, ClinVar RCV001342937, Ensembl rs1893035421, REVEL 0.60, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- V52L (p.Val52Leu), rs730880919, ClinGen CA389053722, ClinVar RCV001184589, TOPMed rs730880919, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not provided
- V52M (p.Val52Met), rs730880919, ClinGen CA010937, ClinVar RCV000158876, ClinVar RCV001184493, REVEL 0.21, ESM-1b 0.71, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- S53P (p.Ser53Pro), TOPMed rs1893034850, REVEL 0.77, ESM-1b 1.00
- S53Y (p.Ser53Tyr), rs1893034734, ClinGen CA389053708, ClinVar RCV001188215, ClinVar RCV002560013, REVEL 0.68, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- R54* (p.Arg54Ter), rs761841748, ClinGen CA257826887, NCI-TCGA Cosmic COSV6252, ClinVar RCV001228344, CADD 41.00, Uncertain significance
- R54G (p.Arg54Gly), ExAC rs761841748, TOPMed rs761841748, gnomAD rs761841748, REVEL 0.50, ESM-1b 1.00, Uncertain significance
- R54L (p.Arg54Leu), rs397516117, ClinGen CA028998, ClinVar RCV000770504, ClinVar RCV002533965, REVEL 0.49, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- R54P (p.Arg54Pro), rs397516117, ClinGen CA389053702, NCI-TCGA Cosmic COSV6251, NCI-TCGA Cosmic COSV6252, REVEL 0.65, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided; Hypertrophic cardiomyopathy
- R54Q (p.Arg54Gln), rs397516117, ClinGen CA011076, NCI-TCGA Cosmic COSV6251, NCI-TCGA Cosmic COSV6252, REVEL 0.46, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- E55D (p.Glu55Asp), TOPMed rs1893034416, REVEL 0.19, ESM-1b 0.00
- G56A (p.Gly56Ala), rs727504870, ClinGen CA011120, ClinVar RCV000156232, ClinVar RCV001307082, REVEL 0.52, ESM-1b 1.00, Uncertain significance, not specified; Cardiomyopathy; not provided
- G56C (p.Gly56Cys), rs759500431, ClinGen CA389053689, NCI-TCGA Cosmic COSV6251, ClinVar RCV001186283, REVEL 0.66, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- G56D (p.Gly56Asp), rs727504870, ClinGen CA389053688, ClinVar RCV004016835, REVEL 0.65, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- G56S (p.Gly56Ser), rs759500431, ClinGen CA029071, ClinVar RCV001326401, ClinVar RCV001776199, REVEL 0.53, ESM-1b 1.00, Uncertain significance, MYH7-related disorder; Cardiovascular phenotype; not provided
- G56V (p.Gly56Val), rs727504870, ClinGen CA389053687, ClinVar RCV001059325, TOPMed rs727504870, REVEL 0.67, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- G57C (p.Gly57Cys), Ensembl rs2138686551, REVEL 0.57, ESM-1b 1.00
- G57D (p.Gly57Asp), TOPMed rs895593295, REVEL 0.19, ESM-1b 0.53
- V59F (p.Val59Phe), rs771132107, ClinGen CA029331, ClinVar RCV004015048, ExAC rs771132107, REVEL 0.52, ESM-1b 0.29, Uncertain significance, Cardiomyopathy
- V59I (p.Val59Ile), rs771132107, UniProt VAR 004567, ExAC rs771132107, gnomAD rs771132107, REVEL 0.53, ESM-1b 0.00, Uncertain significance, Cardiomyopathy
- T60I (p.Thr60Ile), rs2138686529, ClinGen CA389053655, ClinVar RCV001956859, Ensembl rs2138686529, REVEL 0.64, ESM-1b 0.01, Uncertain significance, Hypertrophic cardiomyopathy
- A61P (p.Ala61Pro), rs2502322145, ClinGen CA389053651, ClinVar RCV003750067, REVEL 0.59, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- E62D (p.Glu62Asp), rs1893033359, ClinGen CA389053634, ClinVar RCV004014270, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, Cardiomyopathy
- E62K (p.Glu62Lys), rs727504416, ClinGen CA011346, NCI-TCGA Cosmic COSV1008, ClinVar RCV000154607, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not specified; Cardiomyopathy; Hypertrophic cardiomyopathy
- E62Q (p.Glu62Gln), rs727504416, ClinGen CA389053643, ClinVar RCV001524691, ClinVar RCV005635170, REVEL 0.26, ESM-1b 0.00, Uncertain significance, not provided; Cardiomyopathy
- T63=, rs2069540, ClinVar RCV000154237, Benign
- E64K (p.Glu64Lys), rs1893032881, ClinGen CA389053618, ClinVar RCV003532737, ClinVar RCV003779327, REVEL 0.40, ESM-1b 0.99, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- Y65* (p.Tyr65Ter), rs934278063, ClinGen CA389053596, ClinVar RCV004527812, TOPMed rs934278063, Pathogenic
- Y65C (p.Tyr65Cys), rs2502322071, ClinGen CA389053601, ClinVar RCV003018224, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- Y65H (p.Tyr65His), rs2138686468, ClinGen CA389053606, ClinVar RCV001804266, ClinVar RCV003487789, REVEL 0.27, ESM-1b 0.00, Conflicting interpretations, not specified; Cardiomyopathy; Cardiovascular phenotype
- G66D (p.Gly66Asp), rs1893032620, ClinGen CA389053588, ClinVar RCV001233860, ClinVar RCV004004852, REVEL 0.62, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- G66S (p.Gly66Ser), rs2502322049, ClinGen CA389053593, ClinVar RCV003443922, REVEL 0.64, ESM-1b 1.00, Uncertain significance, not provided
- K67R (p.Lys67Arg), rs2138686446, ClinGen CA389053578, ClinVar RCV004010101, REVEL 0.41, ESM-1b 0.58, Uncertain significance, Cardiomyopathy
- K67T (p.Lys67Thr), rs2138686446, ClinGen CA389053579, ClinVar RCV001963828, ClinVar RCV003226514, REVEL 0.48, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy; not specified
- T68A (p.Thr68Ala), rs2502320501, ClinGen CA389053537, ClinVar RCV003532736, REVEL 0.53, ESM-1b 0.83, Uncertain significance, Cardiomyopathy
- V69L (p.Val69Leu), gnomAD rs1893020075, REVEL 0.24, ESM-1b 0.00
- T70I (p.Thr70Ile), rs1327007939, ClinGen CA389053511, NCI-TCGA Cosmic COSV6251, ClinVar RCV000691796, REVEL 0.52, ESM-1b 0.73, Uncertain significance, Hypertrophic cardiomyopathy
- T70N (p.Thr70Asn), rs1327007939, ClinGen CA389053509, ClinVar RCV000793519, gnomAD rs1327007939, REVEL 0.53, ESM-1b 0.75, Uncertain significance, Hypertrophic cardiomyopathy
- T70S (p.Thr70Ser), rs397516129, ClinGen CA011657, ClinVar RCV000035760, ClinVar RCV002513359, REVEL 0.72, ESM-1b 0.00, Uncertain significance, Myosin storage myopathy; not specified; Hypertrophic cardiomyopathy
- T70C (p.Thr70Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V71A (p.Val71Ala), rs1376905623, ClinGen CA389053497, ClinVar RCV001804257, gnomAD rs1376905623, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- V71M (p.Val71Met), rs730880830, ClinGen CA011723, NCI-TCGA Cosmic COSV6252, ClinVar RCV000168833, REVEL 0.67, ESM-1b 0.18, Uncertain significance, MYH7-related disorder; Dilated cardiomyopathy 1S; Congenital myopathy with fiber
- D74E (p.Asp74Glu), rs763193107, ClinGen CA389053462, ClinVar RCV002573943, ESM-1b 0.00, AlphaMissense 0.11, Likely benign, Cardiovascular phenotype
- D74G (p.Asp74Gly), rs730880831, ClinGen CA011994, ClinVar RCV000158726, ClinVar RCV000698011, REVEL 0.38, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not provided
- D74N (p.Asp74Asn), Ensembl rs1595091126, REVEL 0.35, ESM-1b 1.00
- Q75R (p.Gln75Arg), Ensembl rs749687044, REVEL 0.42, ESM-1b 1.00
- V76A (p.Val76Ala), NCI-TCGA TCGA novel, Ensembl rs1595091109, REVEL 0.56, ESM-1b 1.00, Uncertain significance
- V76E (p.Val76Glu), rs1595091109, ClinGen CA389053443, ClinVar RCV004523014, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- M77T (p.Met77Thr), TOPMed rs1380485301, gnomAD rs1380485301, REVEL 0.33, ESM-1b 0.95
- M77V (p.Met77Val), TOPMed rs1361122150, REVEL 0.21, ESM-1b 0.00
- Q78P (p.Gln78Pro), rs1893018661, ClinGen CA389053424, ClinVar RCV003750057, ClinVar RCV006651472, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- N80H (p.Asn80His), rs2502320327, ClinGen CA389053400, ClinVar RCV002933858, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- N80K (p.Asn80Lys), rs200493975, ClinGen CA389053390, ClinVar RCV000617460, ClinVar RCV003748262, REVEL 0.86, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- P81A (p.Pro81Ala), TOPMed rs1489940065, gnomAD rs1489940065, REVEL 0.87, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- P81S (p.Pro81Ser), rs1489940065, ClinGen CA389053384, ClinVar RCV001224750, ClinVar RCV001813816, REVEL 0.93, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy; not provided
- P82A (p.Pro82Ala), rs2502320292, ClinGen CA389053379, ClinVar RCV003131644, REVEL 0.80, ESM-1b 1.00, Uncertain significance, not provided
- F84L (p.Phe84Leu), TOPMed rs267603955, gnomAD rs267603955, REVEL 0.64, ESM-1b 1.00, Likely benign
- D85G (p.Asp85Gly), rs2502320265, ClinGen CA389053346, ClinVar RCV004016752, REVEL 0.86, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- D85H (p.Asp85His), rs770246266, ClinGen CA033179, ClinVar RCV001312602, ExAC rs770246266, REVEL 0.85, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- D85N (p.Asp85Asn), rs770246266, ClinGen CA389053349, ClinVar RCV000806821, ClinVar RCV001183898, REVEL 0.56, ESM-1b 1.00, Uncertain significance, not provided; Hypertrophic cardiomyopathy; Cardiomyopathy
- D89N (p.Asp89Asn), Ensembl rs2138685642, REVEL 0.84, ESM-1b 1.00
- M90I (p.Met90Ile), rs2138685634, ClinGen CA389053283, ClinVar RCV001879552, Ensembl rs2138685634, REVEL 0.92, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- M90R (p.Met90Arg), rs1893017457, ClinGen CA389053285, ClinVar RCV001044488, Ensembl rs1893017457, REVEL 0.94, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- M90V (p.Met90Val), rs769054108, ClinGen CA034054, ClinVar RCV002027017, ClinVar RCV002486736, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Myopathy, myosin storag
- A91T (p.Ala91Thr), rs2502320174, ClinGen CA389053277, ClinVar RCV003587577, REVEL 0.85, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- A91V (p.Ala91Val), gnomAD rs1283092105, REVEL 0.79, ESM-1b 1.00
- M92T (p.Met92Thr), rs2138685614, ClinGen CA389053264, ClinVar RCV001525000, Ensembl rs2138685614, REVEL 0.77, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- M92V (p.Met92Val), rs1222065426, ClinGen CA389053267, ClinVar RCV001203247, ClinVar RCV001562869, REVEL 0.72, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy
- F95S (p.Phe95Ser), TOPMed rs1035408760, REVEL 0.85, ESM-1b 1.00
- L96Q (p.Leu96Gln), rs1893016563, ClinGen CA389053223, ClinVar RCV001206755, ClinVar RCV005372586, REVEL 0.95, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- E98K (p.Glu98Lys), rs1440846436, ClinGen CA389053206, ClinVar RCV001341891, ClinVar RCV004820878, REVEL 0.88, ESM-1b 1.00, Uncertain significance, Myosin storage myopathy; Hypertrophic cardiomyopathy
- E98Q (p.Glu98Gln), gnomAD rs1440846436, REVEL 0.86, ESM-1b 1.00, Uncertain significance
- E98V (p.Glu98Val), rs727503279, ClinGen CA013219, ClinVar RCV000151315, Ensembl rs727503279, REVEL 0.92, ESM-1b 1.00, Uncertain significance, not specified
- P99S (p.Pro99Ser), rs1485804763, ClinGen CA389053192, ClinVar RCV004013321, REVEL 0.81, ESM-1b 0.91, Uncertain significance, Cardiomyopathy
- P99T (p.Pro99Thr), TOPMed rs1485804763, REVEL 0.86, ESM-1b 1.00, Uncertain significance
- A100E (p.Ala100Glu), gnomAD rs876657882, REVEL 0.76, ESM-1b 1.00, Uncertain significance
- A100G (p.Ala100Gly), NCI-TCGA TCGA novel, REVEL 0.54, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A100S (p.Ala100Ser), rs730880154, NCI-TCGA Cosmic COSV6252, 1000Genomes rs730880154, REVEL 0.24, ESM-1b 0.00, Likely pathogenic
- A100T (p.Ala100Thr), rs730880154, ClinGen CA013285, NCI-TCGA Cosmic COSV6252, REVEL 0.69, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- A100V (p.Ala100Val), rs876657882, ClinGen CA10576964, ClinVar RCV000218742, ClinVar RCV001056161, REVEL 0.72, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy; not specified; Cardiovascular phenotype
- Y103C (p.Tyr103Cys), rs2138685516, ClinGen CA389053141, ClinVar RCV002012399, Ensembl rs2138685516, REVEL 0.67, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- Y103H (p.Tyr103His), Ensembl rs2138685522, REVEL 0.54, ESM-1b 0.30
- N104S (p.Asn104Ser), rs1893015705, ClinGen CA389053128, ClinVar RCV001306601, Ensembl rs1893015705, REVEL 0.80, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- D107E (p.Asp107Glu), rs2754166, UniProt VAR 017745, Ensembl rs2754166, ESM-1b 0.00, AlphaMissense 0.09
- R108C (p.Arg108Cys), rs1893015309, ClinGen CA389053090, NCI-TCGA Cosmic COSV6252, ClinVar RCV001206234, REVEL 0.86, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy; not specified
- R108H (p.Arg108His), rs730880832, ClinGen CA013482, NCI-TCGA Cosmic COSV1008, ClinVar RCV000158727, REVEL 0.84, ESM-1b 1.00, Uncertain significance, Primary dilated cardiomyopathy
- R108L (p.Arg108Leu), rs730880832, ClinGen CA389053083, ClinVar RCV004010104, ClinVar RCV004787092, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy 1; Cardiomyopathy
- R108P (p.Arg108Pro), rs730880832, ClinGen CA389053085, ClinVar RCV003749951, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- Y109* (p.Tyr109Ter), rs36211408, ClinGen CA389053070, ClinVar RCV000805519, ClinVar RCV003332260, Benign
- Y109H (p.Tyr109His), rs1415405257, ClinGen CA389053079, ClinVar RCV001921101, gnomAD rs1415405257, REVEL 0.90, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
- G110A (p.Gly110Ala), NCI-TCGA Cosmic COSV6252, Variant assessed as somatic; moderate impact.
- G110C (p.Gly110Cys), rs763893822, ClinGen CA389053066, ClinVar RCV003532734, ExAC rs763893822, REVEL 0.36, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- G110S (p.Gly110Ser), rs763893822, ClinGen CA036654, ClinVar RCV001509449, ClinVar RCV002324118, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- G110V (p.Gly110Val), rs730880728, ClinGen CA013553, ClinVar RCV000158500, Ensembl rs730880728, REVEL 0.33, ESM-1b 0.59, Likely benign, not specified
- W112* (p.Trp112Ter), rs1431719401, ClinGen CA389053048, ClinVar RCV002023549, gnomAD rs1431719401, CADD 40.00, Uncertain significance
- W112C (p.Trp112Cys), rs1431719401, ClinGen CA389053047, ClinVar RCV002451729, ClinVar RCV005096250, ESM-1b 1.00, AlphaMissense 0.97, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- W112R (p.Trp112Arg), Ensembl rs1595091009, REVEL 0.79, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- M113I (p.Met113Ile), rs867183634, ClinGen CA257826703, ClinVar RCV002633264, ClinVar RCV006272153, REVEL 0.68, ESM-1b 0.45, Uncertain significance, Hypertrophic cardiomyopathy; Primary familial hypertrophic cardiomyopathy
- M113K (p.Met113Lys), rs1595091003, ClinGen CA389053042, ClinVar RCV000809182, ClinVar RCV001525075, REVEL 0.93, ESM-1b 1.00, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- M113L (p.Met113Leu), rs1893014420, ClinGen CA389053045, ClinVar RCV002303399, REVEL 0.63, ESM-1b 0.00, Uncertain significance, Hypertrophic cardiomyopathy
- M113V (p.Met113Val), rs1893014420, ClinGen CA389053044, ClinVar RCV001183174, Ensembl rs1893014420, REVEL 0.82, ESM-1b 1.00, Uncertain significance, Cardiomyopathy
- I114F (p.Ile114Phe), ExAC rs752592463, gnomAD rs752592463, REVEL 0.91, ESM-1b 1.00
- I114N (p.Ile114Asn), rs730880833, ClinGen CA389053036, ClinVar RCV000703364, ExAC rs730880833, REVEL 0.91, ESM-1b 1.00, Uncertain significance, Hypertrophic cardiomyopathy
Public MYH7 analysis runs
- MYH7 analysis run — MYH7 (3,534 variants) — completed 2026-10-26
- MYH7 analysis run — MYH7 (3,534 variants) — completed 2026-10-26
- MYH7 analysis run — MYH7 (3,775 variants) — completed 2026-08-09