TBX20 (T-box transcription factor TBX20) variants and mutations
TBX20 (also known as T-box transcription factor TBX20) is a human protein-coding gene encoding a t-box transcription factor protein. It controls transcriptional programs required for cardiac chamber formation, septation, conduction-system development, and adult myocardial function. Heterozygous pathogenic variants can cause congenital heart defects and dilated cardiomyopathy. This analysis covers 873 TBX20 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes atrial septal defect, dilated cardiomyopathy, and atrial septal defect 1. Example TBX20 variants include E2K, F3L, and T4K.
Variant analysis overview
- Gene: TBX20
- Protein: T-box transcription factor TBX20
- UniProt accession: Q9UMR3
- Organism: Homo sapiens
- Variants analyzed: 873
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 612 unspecified-consequence records; 1 stop lost; 1 stop retained variant; 124 synonymous variants; 118 missense variants; 3 stop-gained variants; 5 frameshift variants; 4 in-frame deletions; 1 in-frame insertions; 2 splice-region variants; 4 substitution
- Prediction scores: 664 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: atrial septal defect, dilated cardiomyopathy, atrial septal defect 1, Abnormality of the cardiovascular system, coronary artery disorder, atrial fibrillation, myocardial ischemia, left ventricular noncompaction, Brugada syndrome, atrial septal defect, ostium secundum type, Abnormal cardiac septum morphology, aortic stenosis.
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 TBX20 variants
Examples include E2K, F3L, T4K, T4S, A5G, A5S, A5T, A5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2K (p.Glu2Lys), rs752468331, ClinGen CA4217622, ClinVar RCV001703394, ClinVar RCV002334648, REVEL 0.55, CADD 28.90, Uncertain significance, not provided; Atrial septal defect 4; Cardiovascular phenotype
- F3L (p.Phe3Leu), TOPMed rs1584361799, NCI-TCGA Cosmic COSV6878, REVEL 0.30, CADD 22.60, Uncertain significance, not provided
- T4K (p.Thr4Lys), rs759458240, ClinGen CA4217620, ClinVar RCV003735975, ClinVar RCV005505742, REVEL 0.53, CADD 23.40, Uncertain significance, not provided; Cardiovascular phenotype
- T4S (p.Thr4Ser), rs147393830, ClinGen CA4217621, ClinVar RCV001293137, ClinVar RCV001879971, REVEL 0.40, CADD 22.40, Conflicting interpretations, Cardiovascular phenotype; not provided; Primary dilated cardiomyopathy
- A5G (p.Ala5Gly), ExAC rs776539771, TOPMed rs776539771, gnomAD rs776539771, Uncertain significance
- A5S (p.Ala5Ser), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- A5T (p.Ala5Thr), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- A5V (p.Ala5Val), rs776539771, ClinGen CA367265686, ClinVar RCV003873415, ExAC rs776539771, REVEL 0.36, CADD 23.50, Uncertain significance, not provided
- S6F (p.Ser6Phe), rs890314176, ClinGen CA156930198, ClinVar RCV002407876, TOPMed rs890314176, REVEL 0.48, CADD 25.20, Uncertain significance, Cardiovascular phenotype
- S6Y (p.Ser6Tyr), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- K8N (p.Lys8Asn), ExAC rs772194085, TOPMed rs772194085, gnomAD rs772194085, REVEL 0.38, CADD 25.10, Uncertain significance, not provided
- K8R (p.Lys8Arg), rs760680589, ExAC rs760680589, gnomAD rs760680589, REVEL 0.27, CADD 23.30, Variant assessed as somatic; moderate impact.
- P9H (p.Pro9His), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- Q10H (p.Gln10His), 1000Genomes rs200480759, ExAC rs200480759, TOPMed rs200480759, gnomAD rs200480759, REVEL 0.46, CADD 24.10, Likely benign
- Q10R (p.Gln10Arg), rs2546999480, ClinGen CA367265658, ClinVar RCV002927434, REVEL 0.51, CADD 25.00, Uncertain significance, not provided
- S12C (p.Ser12Cys), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- S12F (p.Ser12Phe), gnomAD rs1164563985, REVEL 0.73, CADD 32.00
- S13F (p.Ser13Phe), rs1363662149, TOPMed rs1363662149, gnomAD rs1363662149, REVEL 0.54, CADD 32.00, Uncertain significance, Cardiovascular phenotype
- R14W (p.Arg14Trp), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- A15S (p.Ala15Ser), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- N16H (p.Asn16His), rs2546999465, ClinGen CA367265625, ClinVar RCV003177146, Uncertain significance, Cardiovascular phenotype
- N16S (p.Asn16Ser), gnomAD rs1230714807, REVEL 0.27, CADD 24.20, Uncertain significance, Cardiovascular phenotype
- F18V (p.Phe18Val), ExAC rs749691857, TOPMed rs749691857, gnomAD rs749691857, REVEL 0.82, CADD 31.00
- A21D (p.Ala21Asp), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- A21V (p.Ala21Val), rs1584361753, ClinGen CA367265586, ClinVar RCV002838286, Ensembl rs1584361753, AlphaMissense 0.97, MetaLR 0.68, Uncertain significance, not provided
- M24I (p.Met24Ile), rs150700395, ClinGen CA4217607, ClinVar RCV000618709, ClinVar RCV001855266, REVEL 0.54, CADD 22.20, Uncertain significance, Cardiovascular phenotype; not provided
- M24L (p.Met24Leu), rs750946315, ClinGen CA4217608, ClinVar RCV001939186, ExAC rs750946315, REVEL 0.54, CADD 23.30, Uncertain significance, not provided
- M24R (p.Met24Arg), rs2546999444, ClinGen CA367265571, ClinVar RCV003682067, REVEL 0.79, CADD 29.30, Uncertain significance, not provided
- M24V (p.Met24Val), rs750946315, ClinGen CA367265573, ClinVar RCV002367336, ExAC rs750946315, REVEL 0.57, CADD 22.50, Uncertain significance, Cardiovascular phenotype
- S25* (p.Ser25Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S25W (p.Ser25Trp), 1000Genomes rs199991861, ExAC rs199991861, TOPMed rs199991861, gnomAD rs199991861, REVEL 0.58, CADD 32.00, Uncertain significance, not provided
- G27D (p.Gly27Asp), ExAC rs752235454, gnomAD rs752235454, REVEL 0.47, CADD 24.60
- G28D (p.Gly28Asp), rs2546999434, ClinGen CA367265545, ClinVar RCV002624397, REVEL 0.25, CADD 22.00, Uncertain significance, not provided
- S29C (p.Ser29Cys), rs13237089, ClinGen CA4217602, ClinVar RCV001538993, ClinVar RCV002449361, REVEL 0.29, AlphaMissense 0.06, Uncertain significance, not provided; Atrial septal defect 4; Cardiovascular phenotype
- S29F (p.Ser29Phe), rs13237089, ClinGen CA367265539, NCI-TCGA Cosmic COSV1012, ClinVar RCV002928078, AlphaMissense 0.06, MetaLR 0.49, Uncertain significance, not provided
- S29P (p.Ser29Pro), rs759297040, ClinGen CA4217603, ClinVar RCV002447993, ClinVar RCV006620540, REVEL 0.11, CADD 23.00, Uncertain significance, Cardiovascular phenotype; not provided
- K30E (p.Lys30Glu), rs1324827144, ClinGen CA367265537, ClinVar RCV003042131, ClinVar RCV004990976, REVEL 0.32, CADD 23.40, Uncertain significance, Cardiovascular phenotype; not provided
- E31* (p.Glu31Ter), gnomAD rs1388738405
- E31K (p.Glu31Lys), gnomAD rs1388738405, REVEL 0.37, CADD 22.60
- K32E (p.Lys32Glu), TOPMed rs1790345466, Uncertain significance, not provided; Cardiovascular phenotype
- A34E (p.Ala34Glu), rs760317856, ClinGen CA4217600, NCI-TCGA Cosmic COSV1012, ClinVar RCV003714583, REVEL 0.18, CADD 18.40, Uncertain significance, not provided
- A34S (p.Ala34Ser), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- A34T (p.Ala34Thr), Ensembl rs1584361716, REVEL 0.13, CADD 18.90
- T35K (p.Thr35Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E36D (p.Glu36Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N37S (p.Asn37Ser), gnomAD rs1562569203, REVEL 0.17, CADD 19.00, Uncertain significance, Cardiovascular phenotype
- T38A (p.Thr38Ala), gnomAD rs1424012334, REVEL 0.48, CADD 24.90
- I39M (p.Ile39Met), rs1562569196, ClinGen CA367265468, ClinVar RCV000770947, ClinVar RCV003611531, AlphaMissense 0.19, MetaLR 0.51, Uncertain significance, Atrial septal defect 4; not provided
- I39V (p.Ile39Val), rs371697707, ClinGen CA4217597, ClinVar RCV001908932, ClinVar RCV006352591, REVEL 0.28, CADD 23.00, Uncertain significance, Cardiovascular phenotype; not provided
- K40* (p.Lys40Ter), rs2128716604, ClinGen CA367265465, ClinVar RCV001993590, Ensembl rs2128716604, Pathogenic
- K40N (p.Lys40Asn), Ensembl rs1584361697
- K40R (p.Lys40Arg), ExAC rs774382309, gnomAD rs774382309, REVEL 0.18, CADD 23.20
- P41S (p.Pro41Ser), rs2546999394, ClinGen CA367265458, ClinVar RCV003318879, REVEL 0.47, CADD 25.10, Uncertain significance, not provided
- Q44* (p.Gln44Ter), rs2546997554, ClinGen CA367265427, ClinVar RCV002385405, Likely pathogenic
- F45L (p.Phe45Leu), rs771377074, ClinGen CA4217571, ClinVar RCV003341660, ExAC rs771377074, REVEL 0.42, CADD 24.80, Uncertain significance, Cardiovascular phenotype
- F45S (p.Phe45Ser), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- V46L (p.Val46Leu), TOPMed rs1790278184, REVEL 0.43, CADD 24.10
- E47* (p.Glu47Ter), rs2546997545, ClinGen CA367265406, ClinVar RCV003177147, ClinVar RCV005101075, Pathogenic
- E47A (p.Glu47Ala), rs2128716171, ClinGen CA367265405, ClinVar RCV002014271, Ensembl rs2128716171, REVEL 0.47, CADD 24.80, Uncertain significance, not provided
- K48E (p.Lys48Glu), rs2546997540, ClinGen CA367265399, ClinVar RCV002392019, REVEL 0.25, CADD 23.30, Uncertain significance, Cardiovascular phenotype
- K48M (p.Lys48Met), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- K48T (p.Lys48Thr), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- S49L (p.Ser49Leu), ExAC rs778353825, TOPMed rs778353825, gnomAD rs778353825, REVEL 0.39, CADD 24.20, Uncertain significance, not provided
- A52P (p.Ala52Pro), rs868663228, ClinGen CA156929434, ClinVar RCV003038281, gnomAD rs868663228, AlphaMissense 0.09, MetaLR 0.45, Uncertain significance, not provided
- A52V (p.Ala52Val), rs146370768, ClinGen CA4217566, ClinVar RCV003577136, ESP rs146370768, AlphaMissense 0.08, MetaLR 0.50, Uncertain significance, not provided
- Q53* (p.Gln53Ter), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; high impact.
- Q53H (p.Gln53His), rs2546997521, ClinGen CA367265362, ClinVar RCV004521283, Uncertain significance, Cardiovascular phenotype
- P54S (p.Pro54Ser), rs755690552, ClinGen CA367265360, ClinVar RCV003575419, AlphaMissense 0.06, MetaLR 0.51, Uncertain significance, not provided
- P54T (p.Pro54Thr), rs755690552, ClinGen CA4217565, ClinVar RCV002995081, ExAC rs755690552, REVEL 0.29, AlphaMissense 0.06, Uncertain significance, not provided
- L55M (p.Leu55Met), TOPMed rs1790277352, REVEL 0.34, CADD 22.80, Uncertain significance, not provided
- E57K (p.Glu57Lys), TOPMed rs1790277226, REVEL 0.31, CADD 23.20
- L58M (p.Leu58Met), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- T59A (p.Thr59Ala), rs372887264, ClinGen CA4217563, ClinVar RCV003007250, ESP rs372887264, REVEL 0.29, CADD 15.90, Uncertain significance, not provided
- T59N (p.Thr59Asn), rs1489078223, ClinGen CA367265330, ClinVar RCV002715007, TOPMed rs1489078223, AlphaMissense 0.08, MetaLR 0.46, Uncertain significance, not provided
- S60I (p.Ser60Ile), rs1195753406, ClinGen CA367265322, ClinVar RCV001871024, ClinVar RCV003348563, AlphaMissense 0.13, MetaLR 0.49, Uncertain significance, Cardiovascular phenotype; not provided
- S60N (p.Ser60Asn), TOPMed rs1195753406, Uncertain significance
- L61P (p.Leu61Pro), TOPMed rs1790276769, Uncertain significance, Cardiovascular phenotype
- A63T (p.Ala63Thr), rs201839825, ClinGen CA4217560, ClinVar RCV002125052, ClinVar RCV002409521, REVEL 0.24, CADD 15.40, Benign/Likely benign, Cardiovascular phenotype; not provided
- A63V (p.Ala63Val), gnomAD rs1790276578, REVEL 0.24, CADD 21.00
- H64N (p.His64Asn), rs1284014948, ClinGen CA367265300, ClinVar RCV003084169, ClinVar RCV005752160, REVEL 0.28, CADD 22.60, Uncertain significance, not provided; Cardiovascular phenotype
- H64Y (p.His64Tyr), TOPMed rs1284014948, gnomAD rs1284014948, Uncertain significance, not provided
- G65R (p.Gly65Arg), gnomAD rs1223385740, REVEL 0.20, CADD 22.40
- F67L (p.Phe67Leu), rs2546997472, ClinGen CA367265272, ClinVar RCV003288436, REVEL 0.40, CADD 13.10, Uncertain significance, Cardiovascular phenotype
- G68V (p.Gly68Val), rs763145312, ClinGen CA4217558, ClinVar RCV002633413, ExAC rs763145312, REVEL 0.25, CADD 17.20, Uncertain significance, not provided
- G69* (p.Gly69Ter), rs1790276091, ClinGen CA367265264, ClinVar RCV002421958, AlphaMissense 0.26, MetaLR 0.43, Likely pathogenic
- G69A (p.Gly69Ala), rs2128716158, ClinGen CA367265262, ClinVar RCV002029095, Ensembl rs2128716158, AlphaMissense 0.07, MetaLR 0.40, Uncertain significance, not provided
- G69R (p.Gly69Arg), TOPMed rs1790276091, REVEL 0.27, AlphaMissense 0.26
- G70S (p.Gly70Ser), rs1584359977, ClinGen CA367265259, ClinVar RCV000853146, Ensembl rs1584359977, AlphaMissense 0.06, MetaLR 0.44, Uncertain significance, Primary dilated cardiomyopathy
- S71R (p.Ser71Arg), Ensembl rs1790275819, REVEL 0.19, CADD 9.91, Uncertain significance, not provided
- G72D (p.Gly72Asp), rs765324684, ClinGen CA4217555, NCI-TCGA Cosmic COSV9906, ClinVar RCV002417889, REVEL 0.19, CADD 14.80, Uncertain significance, Cardiovascular phenotype
- S73R (p.Ser73Arg), 1000Genomes rs559991983, ExAC rs559991983, gnomAD rs559991983, REVEL 0.24, CADD 21.30, Uncertain significance, Cardiovascular phenotype
- S74I (p.Ser74Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S74N (p.Ser74Asn), ExAC rs776850953, gnomAD rs776850953, REVEL 0.26, CADD 19.10, Likely benign, Cardiovascular phenotype
- S74R (p.Ser74Arg), NCI-TCGA Cosmic COSV1012, REVEL 0.29, CADD 18.40, Variant assessed as somatic; moderate impact.
- P75L (p.Pro75Leu), rs540565352, ClinGen CA4217552, ClinVar RCV003728622, 1000Genomes rs540565352, REVEL 0.28, CADD 22.00, Uncertain significance, not provided
- P75Q (p.Pro75Gln), rs540565352, ClinGen CA367265223, ClinVar RCV002428440, ClinVar RCV005098027, REVEL 0.25, CADD 21.10, Uncertain significance, not provided; Cardiovascular phenotype
- P75R (p.Pro75Arg), 1000Genomes rs540565352, ExAC rs540565352, TOPMed rs540565352, gnomAD rs540565352, REVEL 0.27, CADD 21.20, Uncertain significance
- P75T (p.Pro75Thr), Ensembl rs2128716150
- S77F (p.Ser77Phe), rs1179432793, ClinGen CA367265210, ClinVar RCV004521284, ClinVar RCV005100769, REVEL 0.23, CADD 24.10, Uncertain significance, Cardiovascular phenotype; not provided
- S79C (p.Ser79Cys), ExAC rs773910992, TOPMed rs773910992, gnomAD rs773910992, REVEL 0.30, CADD 23.50, Uncertain significance
- S79F (p.Ser79Phe), rs773910992, ClinGen CA367265199, ClinVar RCV003548361, NCI-TCGA TCGA novel, REVEL 0.27, CADD 23.70, Uncertain significance, not provided
- L80V (p.Leu80Val), rs1790274874, ClinGen CA367265197, ClinVar RCV001962510, ClinVar RCV002458841, REVEL 0.34, CADD 18.00, Uncertain significance, not provided; Cardiovascular phenotype
- T82A (p.Thr82Ala), TOPMed rs1790274812, REVEL 0.47, AlphaMissense 0.10
- T82N (p.Thr82Asn), TOPMed rs1443085742
- T82P (p.Thr82Pro), rs1790274812, ClinGen CA367265185, ClinVar RCV002624014, ClinVar RCV005495499, AlphaMissense 0.10, MetaLR 0.66, Uncertain significance, not provided; Cardiovascular phenotype
- E83D (p.Glu83Asp), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- P84S (p.Pro84Ser), rs267601498, ClinGen CA156929399, ClinVar RCV003665678, gnomAD rs267601498, REVEL 0.35, CADD 22.70, Uncertain significance, not provided
- L85V (p.Leu85Val), Ensembl rs1426977534
- I86F (p.Ile86Phe), TOPMed rs1350589740, Uncertain significance, not provided
- T88A (p.Thr88Ala), rs1297571991, ClinGen CA367265148, ClinVar RCV000498681, ClinVar RCV005286108, REVEL 0.31, CADD 21.00, Uncertain significance, Cardiovascular phenotype; not provided
- T89I (p.Thr89Ile), TOPMed rs1417603653, gnomAD rs1417603653, REVEL 0.37, CADD 22.20, Uncertain significance, Cardiovascular phenotype; not provided
- T89N (p.Thr89Asn), rs1417603653, ClinGen CA367265140, ClinVar RCV003734933, TOPMed rs1417603653, REVEL 0.39, CADD 19.50, Uncertain significance, Cardiovascular phenotype; not provided
- T89S (p.Thr89Ser), rs772683573, ClinGen CA4217549, ClinVar RCV003693005, ClinVar RCV004992719, AlphaMissense 0.07, MetaLR 0.39, Uncertain significance, not provided; Cardiovascular phenotype
- P90L (p.Pro90Leu), gnomAD rs1194984357, REVEL 0.53, CADD 28.90
- P90R (p.Pro90Arg), gnomAD rs1194984357, REVEL 0.50, CADD 27.90
- I91F (p.Ile91Phe), rs2546997377, ClinGen CA367265129, ClinVar RCV003405838, REVEL 0.29, CADD 21.10, Uncertain significance, TBX20-related disorder
- P93L (p.Pro93Leu), rs1267512144, ClinGen CA367265112, ClinVar RCV003177145, ClinVar RCV003738382, REVEL 0.48, CADD 28.10, Uncertain significance, Cardiovascular phenotype; not provided
- P93R (p.Pro93Arg), TOPMed rs1267512144, gnomAD rs1267512144, REVEL 0.48, CADD 28.50, Uncertain significance
- P93S (p.Pro93Ser), Ensembl rs2128716138
- S94N (p.Ser94Asn), rs2546997363, ClinGen CA367265106, ClinVar RCV003327808, Uncertain significance, not provided
- E95* (p.Glu95Ter), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; high impact.
- E95D (p.Glu95Asp), rs755600154, ExAC rs755600154, TOPMed rs755600154, gnomAD rs755600154, REVEL 0.41, CADD 22.50, Likely benign
- E95K (p.Glu95Lys), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- E96D (p.Glu96Asp), ExAC rs745512315, gnomAD rs745512315, REVEL 0.42, CADD 22.40, Uncertain significance, not provided
- E96K (p.Glu96Lys), rs768739120, []
- M97I (p.Met97Ile), Ensembl rs1562568098, REVEL 0.39, CADD 23.80
- M97T (p.Met97Thr), rs2546997354, ClinGen CA367265086, ClinVar RCV003177148, ClinVar RCV005101076, Uncertain significance, Cardiovascular phenotype; not provided
- A98S (p.Ala98Ser), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- A98T (p.Ala98Thr), rs867045469, ClinGen CA156929393, ClinVar RCV003032260, Ensembl rs867045469, AlphaMissense 0.13, MetaLR 0.54, Uncertain significance, not provided
- K99R (p.Lys99Arg), rs2546997347, ClinGen CA367265070, ClinVar RCV004127181, REVEL 0.24, CADD 22.70, Uncertain significance, Cardiovascular phenotype
- I100L (p.Ile100Leu), rs757103622, ClinGen CA4217543, ClinVar RCV003560130, ExAC rs757103622, REVEL 0.54, CADD 23.10, Uncertain significance, not provided
- I100M (p.Ile100Met), NCI-TCGA Cosmic COSV1012, NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- I100T (p.Ile100Thr), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- C102F (p.Cys102Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C102R (p.Cys102Arg), rs2128716135, ClinGen CA367265054, ClinVar RCV001786672, Ensembl rs2128716135, AlphaMissense 1.00, MetaLR 0.84, Uncertain significance, not provided
- E105Q (p.Glu105Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T106I (p.Thr106Ile), TOPMed rs1790273098
- K107N (p.Lys107Asn), ExAC rs777729947, gnomAD rs777729947
- K107R (p.Lys107Arg), rs2546997322, ClinGen CA367265017, ClinVar RCV002323035, Uncertain significance, Cardiovascular phenotype
- E108Q (p.Glu108Gln), ExAC rs758302449, gnomAD rs758302449, REVEL 0.73, CADD 26.70
- L109I (p.Leu109Ile), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- D111N (p.Asp111Asn), rs2128716129, ClinGen CA367264991, ClinVar RCV003856555, Ensembl rs2128716129, AlphaMissense 0.28, MetaLR 0.73, Uncertain significance, not provided
- K112E (p.Lys112Glu), ExAC rs752635061, gnomAD rs752635061, REVEL 0.74, CADD 25.10
- K112T (p.Lys112Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F113L (p.Phe113Leu), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- H114Q (p.His114Gln), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- L116M (p.Leu116Met), TOPMed rs1314182168, gnomAD rs1314182168
- L116V (p.Leu116Val), TOPMed rs1314182168, gnomAD rs1314182168, REVEL 0.68, CADD 27.50
- G117D (p.Gly117Asp), rs138597530, ClinGen CA367264944, ClinVar RCV002224152, ESP rs138597530, REVEL 0.92, CADD 27.00, Uncertain significance, not provided
- G117S (p.Gly117Ser), rs1429397369, ClinGen CA367264947, ClinVar RCV002459118, ClinVar RCV003775645, REVEL 0.89, CADD 27.40, Uncertain significance, Cardiovascular phenotype; not provided
- G117V (p.Gly117Val), rs138597530, ClinGen CA4217538, ClinVar RCV001999540, ClinVar RCV002458981, REVEL 0.92, CADD 26.80, Uncertain significance, Cardiovascular phenotype; not provided
- T118I (p.Thr118Ile), gnomAD rs1325042287, REVEL 0.88, CADD 28.30
- T118P (p.Thr118Pro), rs2546997300, ClinGen CA367264942, ClinVar RCV003728980, Uncertain significance, not provided
- E119K (p.Glu119Lys), rs2546997293, ClinGen CA367264936, ClinVar RCV003067419, REVEL 0.94, CADD 28.80, Uncertain significance, not provided
- M120I (p.Met120Ile), rs2546997292, ClinGen CA367264922, ClinVar RCV003569676, Uncertain significance, not provided
- I121M (p.Ile121Met), rs267607106, ClinGen CA116977, ClinVar RCV000004897, UniProt VAR 073144, AlphaMissense 1.00, MetaLR 0.86, Pathogenic, Atrial septal defect 4
- I121N (p.Ile121Asn), rs1256735922, ClinGen CA367264916, ClinVar RCV003040227, TOPMed rs1256735922, REVEL 0.94, CADD 32.00, Uncertain significance, not provided; Cardiovascular phenotype
- I122V (p.Ile122Val), rs754175462, ClinGen CA4217536, ClinVar RCV001967026, ExAC rs754175462, REVEL 0.59, CADD 22.90, Uncertain significance, not provided
- T123I (p.Thr123Ile), rs2546997266, ClinGen CA367264902, ClinVar RCV003561870, Uncertain significance, not provided
- K124Q (p.Lys124Gln), rs1790271997, ClinGen CA367264901, ClinVar RCV003562917, TOPMed rs1790271997, REVEL 0.93, CADD 29.70, Uncertain significance, not provided
- K124R (p.Lys124Arg), rs2546997262, ClinGen CA367264896, ClinVar RCV004521285, Uncertain significance, Cardiovascular phenotype
- S125* (p.Ser125Ter), rs766692577, ClinGen CA367264890, ClinVar RCV000770948, ClinVar RCV002272337, AlphaMissense 0.94, MetaLR 0.84, Pathogenic
- S125L (p.Ser125Leu), rs766692577, ClinGen CA4217535, ClinVar RCV002700621, ExAC rs766692577, REVEL 0.81, AlphaMissense 0.94, Uncertain significance, not provided
- G126V (p.Gly126Val), ExAC rs773679976, gnomAD rs773679976
- R127M (p.Arg127Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R128K (p.Arg128Lys), rs2128715969, ClinGen CA367264861, ClinVar RCV002008414, Ensembl rs2128715969, AlphaMissense 1.00, MetaLR 0.86, Uncertain significance, not provided
- R128M (p.Arg128Met), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- R128W (p.Arg128Trp), rs2546996543, ClinGen CA367264863, ClinVar RCV003059899, Uncertain significance, not provided
- M129I (p.Met129Ile), NCI-TCGA Cosmic COSV6878, Variant assessed as somatic; moderate impact.
- F130C (p.Phe130Cys), rs2546996540, ClinGen CA367264845, ClinVar RCV002366396, Uncertain significance, Cardiovascular phenotype
- T132I (p.Thr132Ile), rs200630726, ClinGen CA4217513, ClinVar RCV001920786, ClinVar RCV002484491, REVEL 0.75, CADD 31.00, Uncertain significance, Cardiovascular phenotype; Atrial septal defect 4; not provided
- T132S (p.Thr132Ser), ExAC rs200630726, TOPMed rs200630726, gnomAD rs200630726, Uncertain significance
- I133L (p.Ile133Leu), rs1475470182, ClinGen CA367264829, ClinVar RCV003085504, TOPMed rs1475470182, REVEL 0.39, CADD 23.10, Uncertain significance, not provided
- R134G (p.Arg134Gly), NCI-TCGA Cosmic COSV1012, Variant assessed as somatic; moderate impact.
- R134Q (p.Arg134Gln), TOPMed rs1790248013, REVEL 0.65, CADD 25.70
- R134W (p.Arg134Trp), rs2546996531, ClinGen CA367264821, ClinVar RCV002979153, REVEL 0.87, CADD 33.00, Uncertain significance, not provided
- V135L (p.Val135Leu), TOPMed rs1192856838, gnomAD rs1192856838, REVEL 0.71, CADD 25.80, Uncertain significance, not provided
- S136F (p.Ser136Phe), rs2128715964, ClinGen CA367264808, ClinVar RCV001894446, Ensembl rs2128715964, AlphaMissense 0.90, MetaLR 0.89, Uncertain significance, not provided
- S138L (p.Ser138Leu), rs778902854, ClinGen CA4217512, NCI-TCGA Cosmic COSV6878, ClinVar RCV001760485, REVEL 0.68, CADD 25.80, Uncertain significance, Cardiovascular phenotype; not provided; Atrial septal defect 4
- S138W (p.Ser138Trp), ExAC rs778902854, TOPMed rs778902854, gnomAD rs778902854, Uncertain significance
Public TBX20 analysis runs
- TBX20 analysis run — TBX20 (873 variants) — completed 2026-08-22