MYH6 (Myosin-6) variants and mutations
MYH6 (also known as Myosin-6) is a human protein-coding gene encoding a myosin-6 protein. Its alpha-myosin motor contributes to ATP-dependent force generation in the cardiac sarcomere, particularly in atrial myocardium. Pathogenic variants can cause cardiomyopathy, congenital heart defects, and selected conduction-system disorders. This analysis covers 2,707 MYH6 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy, dilated cardiomyopathy 1EE, and atrial septal defect 3. Example MYH6 variants include D3G, D3N, and A4T.
Variant analysis overview
- Gene: MYH6
- Protein: Myosin-6
- UniProt accession: P13533
- Organism: Homo sapiens
- Variants analyzed: 2707
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 2,604 unspecified-consequence records; 3 stop lost; 36 missense variants; 42 synonymous variants; 12 frameshift variants; 3 splice-region variants; 2 in-frame deletions; 1 in-frame insertions; 4 substitution
- Prediction scores: 1,818 variants have prediction scores (67% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy, dilated cardiomyopathy 1EE, atrial septal defect 3, hypertrophic cardiomyopathy 14, familial isolated dilated cardiomyopathy, atrial septal defect, cardiovascular disorder, atrial fibrillation, Rare familial disorder with hypertrophic cardiomyopathy, hypertrophic cardiomyopathy 1, MYH-6 related congenital heart defects, hereditary disease.
Protein structure and variant hotspots
- Protein features: 3 domains; 1 binding sites; 13 post-translational modification sites.
- Structural context: 975 variants have structural context.
- PTM context: 15 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 MYH6 variants
Examples include D3G, D3N, A4T, Q5*, Q5H, Q5R, M6T, D8Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- D3G (p.Asp3Gly), Ensembl rs975545708
- D3N (p.Asp3Asn), rs371667049, ClinGen CA7116277, ClinVar RCV000618041, ClinVar RCV001309340, REVEL 0.44, CADD 24.30, Uncertain significance, Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomy
- A4T (p.Ala4Thr), NCI-TCGA Cosmic COSV6245, Variant assessed as somatic; moderate impact.
- Q5* (p.Gln5Ter), cosmic curated COSV10590, TOPMed rs1891818118
- Q5H (p.Gln5His), rs1891818033, ClinGen CA389032252, ClinVar RCV002801071, gnomAD rs1891818033, REVEL 0.31, CADD 17.70, Uncertain significance, Hypertrophic cardiomyopathy 14
- Q5R (p.Gln5Arg), rs999336503, []
- M6T (p.Met6Thr), rs1270444359, ClinGen CA389032246, ClinVar RCV001046274, gnomAD rs1270444359, REVEL 0.74, CADD 22.90, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- D8Y (p.Asp8Tyr), TOPMed rs1891817893
- F9S (p.Phe9Ser), gnomAD rs1367579362, REVEL 0.84, CADD 25.30, Uncertain significance, Cardiovascular phenotype
- G10E (p.Gly10Glu), Ensembl rs1891817584, REVEL 0.88, CADD 24.80
- A11S (p.Ala11Ser), rs1229334328, NCI-TCGA Cosmic COSV6244, cosmic curated COSV62448, gnomAD rs1229334328, REVEL 0.18, CADD 16.20, Variant assessed as somatic; moderate impact.
- A11V (p.Ala11Val), cosmic curated COSV10067, TOPMed rs1360228952
- A12E (p.Ala12Glu), ExAC rs562487638, TOPMed rs562487638, gnomAD rs562487638, REVEL 0.84, CADD 25.30, Uncertain significance
- A12V (p.Ala12Val), rs562487638, ClinGen CA7116276, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.74, CADD 23.80, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided
- A13V (p.Ala13Val), rs1555335309, ClinGen CA389032198, ClinVar RCV000540828, Ensembl rs1555335309, Uncertain significance, Hypertrophic cardiomyopathy 14
- Q14P (p.Gln14Pro), Ensembl rs1595065752
- Y15H (p.Tyr15His), rs1229592151, ClinGen CA389032188, ClinVar RCV001723366, TOPMed rs1229592151, Uncertain significance, not provided
- Y15N (p.Tyr15Asn), rs1229592151, ClinGen CA389032189, ClinVar RCV004531962, TOPMed rs1229592151, REVEL 0.77, CADD 26.40, Uncertain significance, MYH6-related disorder
- Y15S (p.Tyr15Ser), Ensembl rs1595065744
- L16R (p.Leu16Arg), rs2502213153, ClinGen CA389032177, ClinVar RCV004513760, Uncertain significance, Cardiovascular phenotype
- R17C (p.Arg17Cys), rs1131691313, ClinGen CA389032173, ClinVar RCV000494494, ClinVar RCV003224300, REVEL 0.79, CADD 28.90, Uncertain significance, Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to; Dilated cardio
- R17H (p.Arg17His), rs746646172, ClinGen CA7116275, NCI-TCGA Cosmic COSV6244, cosmic curated COSV62449, REVEL 0.87, CADD 27.00, Uncertain significance, Hypertrophic cardiomyopathy 14
- R17L (p.Arg17Leu), rs746646172, ClinGen CA389032171, cosmic curated COSV62450, ClinVar RCV001364187, REVEL 0.82, CADD 25.90, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 14
- S19T (p.Ser19Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E20Q (p.Glu20Gln), Ensembl rs987272353, REVEL 0.37, CADD 23.20, Uncertain significance, Hypertrophic cardiomyopathy 14
- E22K (p.Glu22Lys), rs2138622800, ClinGen CA389032141, cosmic curated COSV10742, ClinVar RCV001806575, Uncertain significance, Hypertrophic cardiomyopathy 14; not provided
- R23C (p.Arg23Cys), rs587782959, ClinGen CA345828, NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6244, REVEL 0.66, CADD 24.90, Uncertain significance, not provided; Hypertrophic cardiomyopathy 14
- R23H (p.Arg23His), rs771786844, ClinGen CA7116274, ClinVar RCV000647076, ClinVar RCV000770462, REVEL 0.70, CADD 26.50, Uncertain significance, not provided; Cardiomyopathy; Cardiovascular phenotype
- L24I (p.Leu24Ile), rs573489857, ClinGen CA176981, ClinVar RCV000151229, ClinVar RCV000620325, REVEL 0.17, CADD 16.00, Benign/Likely benign, Cardiovascular phenotype; not specified; Cardiomyopathy
- L24P (p.Leu24Pro), rs1320990570, ClinGen CA389032127, ClinVar RCV001174568, ClinVar RCV001294383, REVEL 0.80, CADD 27.00, Uncertain significance, Cardiovascular phenotype; not provided; not specified
- E25K (p.Glu25Lys), ExAC rs778757636, gnomAD rs778757636, REVEL 0.60, CADD 22.90
- A26G (p.Ala26Gly), rs559973480, ClinGen CA7116272, ClinVar RCV000463202, ClinVar RCV002411448, REVEL 0.51, CADD 23.90, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- Q27E (p.Gln27Glu), TOPMed rs1162925455, gnomAD rs1162925455, REVEL 0.68, CADD 23.00
- Q27H (p.Gln27His), gnomAD rs1425680559, REVEL 0.51, CADD 23.40
- R29L (p.Arg29Leu), rs150574114, ClinGen CA389032098, ClinVar RCV001215233, ClinVar RCV002375183, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- R29P (p.Arg29Pro), 1000Genomes rs150574114, ESP rs150574114, ExAC rs150574114, TOPMed rs150574114, Benign
- R29Q (p.Arg29Gln), rs150574114, ClinGen CA176975, ClinVar RCV000151227, ClinVar RCV000246156, REVEL 0.24, CADD 21.30, Benign/Likely benign, Cardiovascular phenotype; not specified; not provided
- R29W (p.Arg29Trp), rs752885646, ClinGen CA7116271, ClinVar RCV001537052, ClinVar RCV002449360, REVEL 0.53, CADD 23.10, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 14
- P30H (p.Pro30His), ExAC rs751750825, gnomAD rs751750825
- P30R (p.Pro30Arg), ExAC rs751750825, gnomAD rs751750825
- P30S (p.Pro30Ser), TOPMed rs951148263
- F31L (p.Phe31Leu), 1000Genomes rs200657398, ExAC rs200657398, gnomAD rs200657398, REVEL 0.52, CADD 12.90
- F31S (p.Phe31Ser), rs2502212943, ClinGen CA389032090, ClinVar RCV002371542, Uncertain significance, Cardiovascular phenotype
- D32H (p.Asp32His), rs750776536, ClinGen CA7116266, ClinVar RCV002374141, ClinVar RCV005097346, REVEL 0.88, CADD 26.30, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- I33S (p.Ile33Ser), TOPMed rs1380115013, REVEL 0.24, CADD 22.40
- R34C (p.Arg34Cys), rs765792077, ClinGen CA7116265, NCI-TCGA Cosmic COSV6245, cosmic curated COSV62452, REVEL 0.50, CADD 27.80, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided
- R34H (p.Arg34His), rs762303505, ClinGen CA7116264, cosmic curated COSV10819, ClinVar RCV000552949, REVEL 0.40, CADD 25.20, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 14
- T35A (p.Thr35Ala), TOPMed rs1891814121
- T35S (p.Thr35Ser), rs876657875, ClinGen CA10576949, ClinVar RCV000222136, Ensembl rs876657875, REVEL 0.20, CADD 17.20, Uncertain significance, not specified
- E36D (p.Glu36Asp), gnomAD rs1223271745, REVEL 0.18, CADD 12.90
- E36K (p.Glu36Lys), rs1891813847, ClinGen CA389032064, ClinVar RCV004513731, Ensembl rs1891813847, Uncertain significance, Cardiovascular phenotype
- C37Y (p.Cys37Tyr), gnomAD rs1891813699, REVEL 0.57, CADD 24.10
- V39M (p.Val39Met), rs142850511, ClinGen CA237379, cosmic curated COSV62452, ClinVar RCV000172038, REVEL 0.73, CADD 24.20, Conflicting interpretations, Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy
- P40L (p.Pro40Leu), ExAC rs775038703, gnomAD rs775038703, REVEL 0.56, CADD 23.10
- P40R (p.Pro40Arg), ExAC rs775038703, gnomAD rs775038703, REVEL 0.56, CADD 23.10
- P40S (p.Pro40Ser), gnomAD rs1220888627, REVEL 0.50, CADD 22.90
- D41E (p.Asp41Glu), gnomAD rs1439963430, REVEL 0.36, CADD 0.53, Likely benign
- D41H (p.Asp41His), rs201161721, ClinGen CA389032031, ClinVar RCV004452498, NCI-TCGA TCGA novel, Uncertain significance, Cardiovascular phenotype
- D41N (p.Asp41Asn), rs201161721, ClinGen CA237376, cosmic curated COSV10466, ClinVar RCV000172037, REVEL 0.55, CADD 24.20, Uncertain significance, not specified; Cardiovascular phenotype; not provided
- K43E (p.Lys43Glu), TOPMed rs1441587255
- K43R (p.Lys43Arg), ExAC rs771062327, gnomAD rs771062327, REVEL 0.37, CADD 23.40
- E45* (p.Glu45Ter), TOPMed rs1891812356, CADD 37.00
- F46Y (p.Phe46Tyr), Ensembl rs1595065619
- V47I (p.Val47Ile), Ensembl rs1891812147, REVEL 0.26, CADD 20.10
- K48Q (p.Lys48Gln), rs1891812021, ClinGen CA389031979, ClinVar RCV004513736, ClinVar RCV005104878, REVEL 0.56, CADD 26.10, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- A49T (p.Ala49Thr), rs2502212707, ClinGen CA389031970, ClinVar RCV002396703, Uncertain significance, Cardiovascular phenotype
- A49V (p.Ala49Val), Ensembl rs1891811948
- K50N (p.Lys50Asn), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- K50R (p.Lys50Arg), TOPMed rs1891811883, Uncertain significance, Hypertrophic cardiomyopathy 14
- R54L (p.Arg54Leu), cosmic curated COSV62454, ExAC rs727503239, TOPMed rs727503239, gnomAD rs727503239, REVEL 0.46, CADD 23.30, Uncertain significance
- R54Q (p.Arg54Gln), rs727503239, ClinGen CA176972, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, REVEL 0.35, CADD 23.50, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy
- R54W (p.Arg54Trp), rs369366244, ClinGen CA7116256, cosmic curated COSV62452, ClinVar RCV001974652, REVEL 0.53, CADD 25.70, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; Hypertrophic cardiomyo
- E55D (p.Glu55Asp), TOPMed rs1221039201
- E55V (p.Glu55Val), rs1317811281, NCI-TCGA Cosmic COSV6244, cosmic curated COSV62449, TOPMed rs1317811281, Variant assessed as somatic; moderate impact.
- G56R (p.Gly56Arg), rs28711516, ClinGen CA134248, cosmic curated COSV62451, ClinVar RCV000037445, REVEL 0.56, CADD 24.40, Benign, Cardiovascular phenotype; not specified; not provided
- G57C (p.Gly57Cys), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- G57D (p.Gly57Asp), TOPMed rs1469851944
- K58N (p.Lys58Asn), rs1891810996, TOPMed rs1891810996, ClinGen CA389031909, ClinVar RCV003629240, REVEL 0.33, CADD 21.50, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- K58R (p.Lys58Arg), rs1427899950, ClinGen CA389031911, ClinVar RCV001987046, gnomAD rs1427899950, REVEL 0.44, CADD 21.90, Uncertain significance, Hypertrophic cardiomyopathy 14
- V59F (p.Val59Phe), ESP rs377029781, ExAC rs377029781, TOPMed rs377029781, gnomAD rs377029781, REVEL 0.41, CADD 22.30, Uncertain significance, Cardiovascular phenotype
- V59I (p.Val59Ile), ESP rs377029781, ExAC rs377029781, TOPMed rs377029781, gnomAD rs377029781, REVEL 0.28, CADD 16.60, Uncertain significance
- V59L (p.Val59Leu), rs377029781, ClinGen CA7116254, ClinVar RCV001943682, ClinVar RCV003322905, REVEL 0.35, CADD 21.70, Uncertain significance, Hypertrophic cardiomyopathy 14; Cardiovascular phenotype; not provided
- A61P (p.Ala61Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A61V (p.Ala61Val), rs730880148, ClinGen CA346474, ClinVar RCV000157335, ClinVar RCV001850184, REVEL 0.13, CADD 18.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Atrial septal defect 3
- E62K (p.Glu62Lys), rs1891810495, ClinGen CA389031891, ClinVar RCV001241035, Ensembl rs1891810495, Uncertain significance, Hypertrophic cardiomyopathy 14
- T63S (p.Thr63Ser), gnomAD rs1454138216, REVEL 0.55, CADD 23.10, Uncertain significance, not provided
- E64K (p.Glu64Lys), rs750818212, ClinGen CA7116252, ClinVar RCV001201962, ClinVar RCV002269343, REVEL 0.41, CADD 21.10, Uncertain significance, not provided; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibil
- N65S (p.Asn65Ser), Ensembl rs1566517347, REVEL 0.14, CADD 13.60
- N65T (p.Asn65Thr), NCI-TCGA Cosmic COSV6244, cosmic curated COSV62448, Variant assessed as somatic; moderate impact.
- G66V (p.Gly66Val), NCI-TCGA Cosmic COSV6245, cosmic curated COSV62455, Variant assessed as somatic; moderate impact.
- K67N (p.Lys67Asn), rs757559746, ClinGen CA389031850, ClinVar RCV001902678, ClinVar RCV002482660, Uncertain significance, Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect
- K67Q (p.Lys67Gln), gnomAD rs1250343009, REVEL 0.32, CADD 20.50
- T68K (p.Thr68Lys), ExAC rs751285148, TOPMed rs751285148, gnomAD rs751285148, REVEL 0.72, CADD 29.30, Uncertain significance
- T68M (p.Thr68Met), rs751285148, ClinGen CA7116227, NCI-TCGA Cosmic COSV6245, cosmic curated COSV62451, REVEL 0.62, CADD 25.60, Uncertain significance, Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Atrial septal defect
- V69E (p.Val69Glu), rs2502209394, ClinGen CA389031829, ClinVar RCV002422112, Uncertain significance, Cardiovascular phenotype
- V71A (p.Val71Ala), rs769686237, ClinGen CA7116223, ClinVar RCV000685753, ClinVar RCV001753772, REVEL 0.64, CADD 25.30, Uncertain significance, Atrial septal defect 3; Dilated cardiomyopathy 1EE; Sick sinus syndrome 3, susce
- V71M (p.Val71Met), ExAC rs773127466, gnomAD rs773127466, REVEL 0.59, CADD 21.90
- E73K (p.Glu73Lys), TOPMed rs1891766670, REVEL 0.42, CADD 23.70
- D74E (p.Asp74Glu), rs2502209330, ClinGen CA389031794, ClinVar RCV003630863, REVEL 0.19, CADD 14.70, Uncertain significance, Hypertrophic cardiomyopathy 14
- D74N (p.Asp74Asn), NCI-TCGA Cosmic COSV6245, cosmic curated COSV62452, Variant assessed as somatic; moderate impact.
- Q75R (p.Gln75Arg), ExAC rs761815039, gnomAD rs761815039, REVEL 0.40, CADD 23.50, Uncertain significance, Hypertrophic cardiomyopathy 14
- V76L (p.Val76Leu), TOPMed rs977234074, gnomAD rs977234074, Uncertain significance
- V76M (p.Val76Met), rs977234074, ClinGen CA257799250, ClinVar RCV000647051, ClinVar RCV002449056, REVEL 0.39, CADD 23.70, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopath
- Q78H (p.Gln78His), rs1891766127, ClinGen CA389031769, ClinVar RCV004136868, gnomAD rs1891766127, Uncertain significance, Cardiovascular phenotype
- Q78R (p.Gln78Arg), rs772216708, ClinGen CA7116220, ClinVar RCV000600539, ClinVar RCV002291678, REVEL 0.10, CADD 20.10, Uncertain significance, not provided; Cardiovascular phenotype; not specified
- Q79H (p.Gln79His), NCI-TCGA Cosmic COSV6245, cosmic curated COSV62450, Variant assessed as somatic; moderate impact.
- N80S (p.Asn80Ser), rs2138620546, ClinGen CA389031755, ClinVar RCV001888754, Ensembl rs2138620546, Uncertain significance, Hypertrophic cardiomyopathy 14
- P81S (p.Pro81Ser), TOPMed rs1448176145, gnomAD rs1448176145, REVEL 0.78, CADD 27.20
- P82L (p.Pro82Leu), rs529427223, ClinGen CA176969, cosmic curated COSV62448, ClinVar RCV000151225, REVEL 0.72, CADD 28.50, Conflicting interpretations, Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 14
- P82S (p.Pro82Ser), rs754260713, ClinGen CA7116219, ClinVar RCV001879035, ClinVar RCV002458690, REVEL 0.53, CADD 26.30, Uncertain significance, Sick sinus syndrome 3, susceptibility to; Hypertrophic cardiomyopathy 1; Dilated
- P82T (p.Pro82Thr), ExAC rs754260713, TOPMed rs754260713, gnomAD rs754260713, REVEL 0.66, CADD 26.70, Uncertain significance, not provided; Cardiovascular phenotype
- K83E (p.Lys83Glu), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- F84L (p.Phe84Leu), rs397516757, ClinGen CA389031728, ClinVar RCV002455715, REVEL 0.40, CADD 21.60, Uncertain significance, Cardiovascular phenotype
- D85N (p.Asp85Asn), rs397516758, ClinGen CA134280, ClinVar RCV000037457, ClinVar RCV003352754, REVEL 0.37, CADD 24.20, Uncertain significance, Cardiovascular phenotype; not specified
- D85Y (p.Asp85Tyr), ExAC rs397516758, TOPMed rs397516758, gnomAD rs397516758, REVEL 0.68, CADD 24.90, Uncertain significance
- I87F (p.Ile87Phe), rs1021271475, ClinGen CA257799212, ClinVar RCV001205374, ClinVar RCV001796385, REVEL 0.69, CADD 27.70, Uncertain significance, Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phenotype
- E88Q (p.Glu88Gln), rs442275, UniProt VAR 030203, ExAC rs442275, gnomAD rs442275, REVEL 0.73, CADD 25.40
- D89N (p.Asp89Asn), rs1289213430, ClinGen CA389031698, ClinVar RCV001234752, gnomAD rs1289213430, REVEL 0.73, CADD 24.40, Uncertain significance, Hypertrophic cardiomyopathy 14
- M90I (p.Met90Ile), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- M90T (p.Met90Thr), rs919307122, ClinGen CA257799198, ClinVar RCV000527362, ClinVar RCV003319373, REVEL 0.86, CADD 26.40, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; not provided
- M90V (p.Met90Val), rs778199745, ClinGen CA7116217, ClinVar RCV001323339, ClinVar RCV002223300, REVEL 0.77, CADD 23.80, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14; Hypertrophic cardiomyo
- A91T (p.Ala91Thr), NCI-TCGA Cosmic COSV6244, cosmic curated COSV62448, Variant assessed as somatic; moderate impact.
- M92I (p.Met92Ile), Ensembl rs989677877
- M92T (p.Met92Thr), rs756371897, ClinGen CA7116216, ClinVar RCV003177679, ExAC rs756371897, REVEL 0.78, CADD 25.50, Uncertain significance, Cardiovascular phenotype
- T94N (p.Thr94Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E98K (p.Glu98Lys), rs140596256, ClinGen CA134302, cosmic curated COSV62450, ClinVar RCV000037465, REVEL 0.92, CADD 26.50, Conflicting interpretations, Cardiovascular phenotype; Atrial septal defect 3; Dilated cardiomyopathy 1EE
- E98Q (p.Glu98Gln), 1000Genomes rs140596256, ESP rs140596256, ExAC rs140596256, TOPMed rs140596256, REVEL 0.90, CADD 25.20, Likely benign
- P99H (p.Pro99His), cosmic curated COSV62450, TOPMed rs1406034162, gnomAD rs1406034162, REVEL 0.82, CADD 27.10
- P99S (p.Pro99Ser), NCI-TCGA Cosmic COSV6244, cosmic curated COSV62447, Variant assessed as somatic; moderate impact.
- A100V (p.Ala100Val), NCI-TCGA Cosmic COSV6244, cosmic curated COSV62449, REVEL 0.81, CADD 25.60, Variant assessed as somatic; moderate impact.
- V101M (p.Val101Met), rs1004123964, ClinVar RCV004645775, ClinVar RCV006474332, TOPMed rs1004123964, REVEL 0.80, CADD 25.70, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- L102I (p.Leu102Ile), rs762688602, ClinGen CA7116211, ClinVar RCV002444085, ClinVar RCV003629235, REVEL 0.66, CADD 23.30, Uncertain significance, Hypertrophic cardiomyopathy 14; Cardiovascular phenotype
- F103C (p.Phe103Cys), rs376330318, ClinGen CA257799164, ClinVar RCV003515859, ESP rs376330318, REVEL 0.48, CADD 15.70, Uncertain significance, Hypertrophic cardiomyopathy 14
- N104H (p.Asn104His), rs2138620434, ClinGen CA389031527, ClinVar RCV001996544, Ensembl rs2138620434, Uncertain significance, Hypertrophic cardiomyopathy 14
- N104Y (p.Asn104Tyr), Ensembl rs2138620434, Uncertain significance
- L105I (p.Leu105Ile), rs750029272, NCI-TCGA Cosmic COSV6244, NCI-TCGA Cosmic COSV6245, cosmic curated COSV62454, REVEL 0.74, CADD 25.90, Uncertain significance, not provided
- K106R (p.Lys106Arg), gnomAD rs1369725432
- R108C (p.Arg108Cys), NCI-TCGA Cosmic COSV6245, cosmic curated COSV62451, Variant assessed as somatic; moderate impact.
- Y109* (p.Tyr109Ter), cosmic curated COSV62452, ESP rs147148031, ExAC rs147148031, TOPMed rs147148031, CADD 24.90, Likely benign
- Y109H (p.Tyr109His), rs926609805, ClinGen CA257799148, ClinVar RCV002224227, ClinVar RCV002505883, REVEL 0.93, CADD 26.30, Uncertain significance, Hypertrophic cardiomyopathy 1; Sick sinus syndrome 3, susceptibility to; Atrial
- A110T (p.Ala110Thr), rs397516760, ClinGen CA134316, NCI-TCGA Cosmic COSV6245, cosmic curated COSV62452, REVEL 0.38, CADD 18.50, Uncertain significance, not specified; not provided; Hypertrophic cardiomyopathy 14
- A110V (p.Ala110Val), rs149454728, ClinGen CA7116207, ClinVar RCV001047864, ClinVar RCV002320272, REVEL 0.50, CADD 22.20, Uncertain significance, Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phenotype
- W112R (p.Trp112Arg), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Variant assessed as somatic; moderate impact.
- M113I (p.Met113Ile), ESP rs150745354, ExAC rs150745354, TOPMed rs150745354, gnomAD rs150745354, REVEL 0.50, CADD 19.10
- M113V (p.Met113Val), Ensembl rs2138620376
- I114M (p.Ile114Met), rs2502208946, ClinGen CA389031351, ClinVar RCV002337445, REVEL 0.63, CADD 23.60, Uncertain significance, Cardiovascular phenotype
- I114T (p.Ile114Thr), rs899143706, ClinGen CA257799121, ClinVar RCV003165123, ClinVar RCV004540628, REVEL 0.83, CADD 24.60, Uncertain significance, not provided; Cardiovascular phenotype
- Y115* (p.Tyr115Ter), ExAC rs770221652, TOPMed rs770221652, gnomAD rs770221652, CADD 25.70, Likely benign
- Y115C (p.Tyr115Cys), TOPMed rs1290352295
- Y115H (p.Tyr115His), rs777804028, ClinGen CA7116203, ClinVar RCV002471704, ExAC rs777804028, REVEL 0.91, CADD 26.50, Uncertain significance, Hypertrophic cardiomyopathy 14
- T116P (p.Thr116Pro), Ensembl rs1595064578
- Y117N (p.Tyr117Asn), gnomAD rs1478881834, REVEL 0.89, CADD 28.90
- S118* (p.Ser118Ter), rs1322526035, ClinGen CA389031254, ClinVar RCV004529682, Uncertain significance
- S118L (p.Ser118Leu), rs1322526035, ClinGen CA389031251, ClinVar RCV001360550, ClinVar RCV001572279, REVEL 0.91, CADD 29.20, Uncertain significance, not provided; Hypertrophic cardiomyopathy 14
- L120F (p.Leu120Phe), rs769074801, ClinGen CA389031236, ClinVar RCV003514046, ExAC rs769074801, Uncertain significance, Hypertrophic cardiomyopathy 14
- L120P (p.Leu120Pro), TOPMed rs1891752094, gnomAD rs1891752094, REVEL 0.94, CADD 28.60
- L120V (p.Leu120Val), rs769074801, ClinGen CA7116183, ClinVar RCV002933843, ClinVar RCV004067195, REVEL 0.65, CADD 22.50, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- C122F (p.Cys122Phe), TOPMed rs1365800845, Uncertain significance, Cardiovascular phenotype
- V125I (p.Val125Ile), TOPMed rs1891751838, Uncertain significance
- V125L (p.Val125Leu), rs1891751838, ClinGen CA389031169, ClinVar RCV003823137, TOPMed rs1891751838, REVEL 0.70, CADD 23.20, Uncertain significance, Hypertrophic cardiomyopathy 14
- N126I (p.Asn126Ile), Ensembl rs1595064560
- N126T (p.Asn126Thr), Ensembl rs1595064560
- P127A (p.Pro127Ala), rs1555335108, ClinGen CA389031152, ClinVar RCV000647056, Ensembl rs1555335108, Uncertain significance, Hypertrophic cardiomyopathy 14
- P127T (p.Pro127Thr), Ensembl rs1555335108, Uncertain significance
- Y128C (p.Tyr128Cys), ExAC rs745340861, gnomAD rs745340861, REVEL 0.97, CADD 27.60
- Y128H (p.Tyr128His), TOPMed rs1891751513, REVEL 0.89, CADD 27.70
- K129R (p.Lys129Arg), NCI-TCGA Cosmic COSV1006, cosmic curated COSV10067, Ensembl rs2138619893, Variant assessed as somatic; moderate impact.
- W130G (p.Trp130Gly), Ensembl rs1595064549
- W130R (p.Trp130Arg), Ensembl rs1595064549, REVEL 0.82, CADD 27.00
- P132A (p.Pro132Ala), gnomAD rs1278525766, REVEL 0.75, CADD 24.20
- P132L (p.Pro132Leu), rs2046697143, ClinGen CA389031083, cosmic curated COSV62455, ClinVar RCV001065030, Uncertain significance, Hypertrophic cardiomyopathy 14
- V133G (p.Val133Gly), Ensembl rs1595064533
- Y134H (p.Tyr134His), rs2502207692, ClinGen CA389031066, ClinVar RCV004513752, Uncertain significance, Cardiovascular phenotype
- N135H (p.Asn135His), gnomAD rs1347549938, REVEL 0.29, CADD 23.70
- N135K (p.Asn135Lys), TOPMed rs1350104595, REVEL 0.14, CADD 2.71
- N135S (p.Asn135Ser), rs763885051, ClinGen CA7116176, ClinVar RCV003177688, ExAC rs763885051, REVEL 0.11, CADD 20.60, Uncertain significance, Cardiovascular phenotype
- E137* (p.Glu137Ter), ExAC rs752658033, TOPMed rs752658033, gnomAD rs752658033, CADD 40.00, Uncertain significance
- E137K (p.Glu137Lys), rs752658033, ClinGen CA7116174, ClinVar RCV001981970, ClinVar RCV002324358, REVEL 0.53, CADD 21.80, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- V138A (p.Val138Ala), ExAC rs763139129, gnomAD rs763139129, REVEL 0.72, CADD 25.10
- V138G (p.Val138Gly), ExAC rs763139129, gnomAD rs763139129
Public MYH6 analysis runs
- MYH6 analysis run — MYH6 (2,707 variants) — completed 2026-08-18