TNXB (Tenascin-X) variants and mutations
TNXB (also known as Tenascin-X) is a human protein-coding gene encoding a tenascin-X protein. Tenascin-X is an extracellular-matrix glycoprotein that supports collagen organization and tissue elasticity. Biallelic variants can cause classical-like Ehlers-Danlos syndrome. This analysis covers 5,920 TNXB variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes Ehlers-Danlos syndrome due to tenascin-X deficiency, vesicoureteral reflux 8, and Abnormality of the cardiovascular system. Example TNXB variants include M2L, A4T, and Q5K.
Variant analysis overview
- Gene: TNXB
- Protein: Tenascin-X
- UniProt accession: P22105
- Organism: Homo sapiens
- Variants analyzed: 5920
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 5,644 unspecified-consequence records; 87 synonymous variants; 14 frameshift variants; 160 missense variants; 2 in-frame deletions; 8 stop-gained variants; 4 splice-region variants; 1 in-frame insertions; 1 substitution
- Prediction scores: 5,852 variants have prediction scores (99% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Ehlers-Danlos syndrome due to tenascin-X deficiency, vesicoureteral reflux 8, Abnormality of the cardiovascular system, Ehlers-Danlos syndrome, hereditary disease, familial vesicoureteral reflux, Ehlers-Danlos syndrome, hypermobility type, Joint hypermobility, Myoclonus, Abnormal pattern of respiration, Hypotonia, Breathing dysregulation.
Protein structure and variant hotspots
- Protein features: 52 domains; 5 post-translational modification sites.
- Structural context: 5,192 variants have structural context.
- PTM context: 6 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, MaveDB, LitVar.
Diseases linked to TNXB
Notable TNXB variants
Examples include M2L, A4T, Q5K, Q5R, Y6C, A7G, L8V, T9I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M2L (p.Met2Leu), ExAC rs770613234, TOPMed rs770613234, gnomAD rs770613234, REVEL 0.28, ESM-1b 0.00
- A4T (p.Ala4Thr), cosmic curated COSV11586, ESM-1b 0.00, AlphaMissense 0.09
- Q5K (p.Gln5Lys), ExAC rs746664079, gnomAD rs746664079, REVEL 0.13, ESM-1b 0.00
- Q5R (p.Gln5Arg), cosmic curated COSV64480, ESM-1b 0.00, AlphaMissense 0.08
- Y6C (p.Tyr6Cys), Ensembl rs762669404, REVEL 0.14, ESM-1b 0.00
- A7G (p.Ala7Gly), Ensembl rs1582481732, ESM-1b 0.00, AlphaMissense 0.09
- L8V (p.Leu8Val), gnomAD rs1343497231, ESM-1b 0.00, AlphaMissense 0.07
- T9I (p.Thr9Ile), ExAC rs757855203, gnomAD rs757855203, REVEL 0.05, ESM-1b 0.00
- S10C (p.Ser10Cys), rs747624258, ClinGen CA3735924, ClinVar RCV002435603, ClinVar RCV004790213, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided
- S11C (p.Ser11Cys), rs1416828643, ClinGen CA363493778, ClinVar RCV002293284, TOPMed rs1416828643, REVEL 0.11, ESM-1b 0.00, Likely pathogenic, Ehlers-Danlos syndrome due to tenascin-X deficiency
- S11G (p.Ser11Gly), rs1416828643, ClinGen CA363493799, ClinVar RCV004524384, TOPMed rs1416828643, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Cardiovascular phenotype
- V13F (p.Val13Phe), gnomAD rs898029071, REVEL 0.08, ESM-1b 0.00
- V13I (p.Val13Ile), gnomAD rs898029071, ESM-1b 0.00, AlphaMissense 0.11
- L14V (p.Leu14Val), rs755462290, ClinGen CA3735922, ClinVar RCV002323318, ExAC rs755462290, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- V16A (p.Val16Ala), rs754301945, ClinGen CA3735919, ClinVar RCV003377557, ExAC rs754301945, ESM-1b 0.00, AlphaMissense 0.17, Uncertain significance, Cardiovascular phenotype
- L17V (p.Leu17Val), ExAC rs780534506, gnomAD rs780534506, REVEL 0.22, ESM-1b 0.00
- A21V (p.Ala21Val), cosmic curated COSV64480, ESM-1b 0.00, AlphaMissense 0.12
- A23T (p.Ala23Thr), gnomAD rs1464969608, REVEL 0.08, ESM-1b 0.00
- A23V (p.Ala23Val), ExAC rs756471108, REVEL 0.16, ESM-1b 0.72
- G24D (p.Gly24Asp), gnomAD rs1421166281, REVEL 0.34, ESM-1b 0.00
- P25A (p.Pro25Ala), gnomAD rs1475344186, REVEL 0.27, ESM-1b 0.00
- P25R (p.Pro25Arg), gnomAD rs1727980854, REVEL 0.41, ESM-1b 0.00
- S27C (p.Ser27Cys), cosmic curated COSV99056, ESM-1b 0.00, AlphaMissense 0.30
- S27F (p.Ser27Phe), rs372058480, ClinGen CA3735915, ClinVar RCV002419479, ClinVar RCV005931873, REVEL 0.27, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not specified
- S27T (p.Ser27Thr), TOPMed rs1256285075, gnomAD rs1256285075, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R29Q (p.Arg29Gln), rs184878358, ClinGen CA3735913, ClinVar RCV001566921, ClinVar RCV002276796, REVEL 0.27, ESM-1b 0.00, Benign/Likely benign, Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8; Ca
- R29W (p.Arg29Trp), rs368512272, ClinGen CA3735914, ClinVar RCV001762809, ClinVar RCV003323923, REVEL 0.56, ESM-1b 0.00, Uncertain significance, not provided; Cardiovascular phenotype; not specified
- S30A (p.Ser30Ala), gnomAD rs1196850911, REVEL 0.26, ESM-1b 0.00
- N31D (p.Asn31Asp), ESP rs371203468, ExAC rs371203468, TOPMed rs371203468, gnomAD rs371203468, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- N31K (p.Asn31Lys), TOPMed rs1235484577, gnomAD rs1235484577, REVEL 0.31, ESM-1b 0.00
- N31S (p.Asn31Ser), ExAC rs759483542, TOPMed rs759483542, gnomAD rs759483542, REVEL 0.31, ESM-1b 0.00, Uncertain significance, not provided
- T33I (p.Thr33Ile), ESP rs377701017, ExAC rs377701017, TOPMed rs377701017, gnomAD rs377701017, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P35L (p.Pro35Leu), TOPMed rs1780516993, ESM-1b 0.00, AlphaMissense 0.12
- A36D (p.Ala36Asp), TOPMed rs1445990247, gnomAD rs1445990247, REVEL 0.15, ESM-1b 0.00
- A36V (p.Ala36Val), cosmic curated COSV10749, TOPMed rs1445990247, gnomAD rs1445990247, REVEL 0.06, ESM-1b 0.00
- P37L (p.Pro37Leu), NCI-TCGA Cosmic COSV6448, cosmic curated COSV64488, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not specified
- P37S (p.Pro37Ser), rs2483773092, ClinGen CA363493164, ClinVar RCV003887683, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- R38L (p.Arg38Leu), 1000Genomes rs149502087, ESP rs149502087, ExAC rs149502087, TOPMed rs149502087, ESM-1b 0.00, AlphaMissense 0.20, Benign
- R38P (p.Arg38Pro), 1000Genomes rs149502087, ESP rs149502087, ExAC rs149502087, TOPMed rs149502087, REVEL 0.31, ESM-1b 0.00, Uncertain significance, not provided
- R38Q (p.Arg38Gln), rs149502087, ClinGen CA3735905, cosmic curated COSV99056, ClinVar RCV001586742, REVEL 0.15, ESM-1b 0.00, Benign/Likely benign, Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-X deficiency; no
- R38W (p.Arg38Trp), rs760408528, ClinGen CA3735908, ClinVar RCV002320558, ExAC rs760408528, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P39A (p.Pro39Ala), ExAC rs747637294, TOPMed rs747637294, gnomAD rs747637294, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P39L (p.Pro39Leu), Ensembl rs2127294445, REVEL 0.21, ESM-1b 0.00
- P39S (p.Pro39Ser), cosmic curated COSV64484, ESM-1b 0.00, AlphaMissense 0.13
- P41H (p.Pro41His), cosmic curated COSV64489, REVEL 0.29, ESM-1b 0.00
- P41L (p.Pro41Leu), cosmic curated COSV64478, ExAC rs769084817, TOPMed rs769084817, gnomAD rs769084817, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P41R (p.Pro41Arg), ExAC rs769084817, TOPMed rs769084817, gnomAD rs769084817, REVEL 0.31, ESM-1b 0.00
- P41S (p.Pro41Ser), cosmic curated COSV64492, gnomAD rs1780515011, REVEL 0.28, ESM-1b 0.00
- Q42* (p.Gln42Ter), TOPMed rs1310999737
- Q42H (p.Gln42His), cosmic curated COSV11586, ESM-1b 0.00, AlphaMissense 0.22
- P43A (p.Pro43Ala), rs2483772846, ClinGen CA363493026, ClinVar RCV002385271, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Cardiovascular phenotype
- P43L (p.Pro43Leu), rs749808879, ClinGen CA3735901, ClinVar RCV002383280, ExAC rs749808879, REVEL 0.32, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- G44V (p.Gly44Val), gnomAD rs1290324165, REVEL 0.31, ESM-1b 0.00
- G45V (p.Gly45Val), TOPMed rs1247295789, REVEL 0.32, ESM-1b 0.00
- H46R (p.His46Arg), Ensembl rs2127294403, ESM-1b 0.00, AlphaMissense 0.05
- H46Y (p.His46Tyr), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, ESM-1b 0.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- T47K (p.Thr47Lys), cosmic curated COSV10749, ESM-1b 0.00, AlphaMissense 0.15
- V48G (p.Val48Gly), TOPMed rs1412694151, gnomAD rs1412694151, REVEL 0.18, ESM-1b 0.00, Uncertain significance, not specified
- V48M (p.Val48Met), Ensembl rs769465899, REVEL 0.17, ESM-1b 0.00
- A50P (p.Ala50Pro), 1000Genomes rs576973691, ExAC rs576973691, TOPMed rs576973691, gnomAD rs576973691, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance
- A50S (p.Ala50Ser), rs576973691, ClinGen CA3735898, ClinVar RCV002389672, ClinVar RCV002464662, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided; TNXB-related disorder
- A50V (p.Ala50Val), NCI-TCGA Cosmic COSV6448, cosmic curated COSV64483, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- G51E (p.Gly51Glu), TOPMed rs1780512328, ESM-1b 0.00, AlphaMissense 0.09
- G51R (p.Gly51Arg), ExAC rs781290505, gnomAD rs781290505, REVEL 0.05, ESM-1b 0.00
- V52M (p.Val52Met), ExAC rs757476937, TOPMed rs757476937, gnomAD rs757476937, REVEL 0.03, ESM-1b 0.00
- G53E (p.Gly53Glu), NCI-TCGA Cosmic COSV6447, cosmic curated COSV64473, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- P55L (p.Pro55Leu), 1000Genomes rs2127294359, REVEL 0.24, ESM-1b 0.00
- S56C (p.Ser56Cys), rs751628394, ClinGen CA3735895, ClinVar RCV002405999, ExAC rs751628394, REVEL 0.36, ESM-1b 0.27, Uncertain significance, Cardiovascular phenotype
- S56P (p.Ser56Pro), TOPMed rs1332242390, gnomAD rs1332242390, REVEL 0.38, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- S56Y (p.Ser56Tyr), cosmic curated COSV10092, ESM-1b 0.00, AlphaMissense 0.20
- Q58H (p.Gln58His), cosmic curated COSV10092, TOPMed rs1411300342, gnomAD rs1411300342, REVEL 0.23, ESM-1b 0.00
- Y60* (p.Tyr60Ter), gnomAD rs943965548, CADD 21.80, Likely benign
- Y60N (p.Tyr60Asn), rs2483772459, ClinGen CA363492702, ClinVar RCV004524362, ESM-1b 1.00, AlphaMissense 0.71, Uncertain significance, Cardiovascular phenotype
- E61K (p.Glu61Lys), rs747748846, ClinGen CA3735894, cosmic curated COSV11586, ClinVar RCV002410336, REVEL 0.50, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- H62N (p.His62Asn), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, ESM-1b 1.00, AlphaMissense 0.57, Variant assessed as somatic; moderate impact.
- H62Y (p.His62Tyr), TOPMed rs2066017103, ESM-1b 1.00, AlphaMissense 0.45
- V64E (p.Val64Glu), cosmic curated COSV10611, ESM-1b 1.00, AlphaMissense 0.49
- E65A (p.Glu65Ala), rs1780509782, ClinGen CA363492587, ClinVar RCV004524368, TOPMed rs1780509782, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance, Cardiovascular phenotype
- E65K (p.Glu65Lys), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, REVEL 0.31, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G66* (p.Gly66Ter), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, Variant assessed as somatic; high impact.
- G66A (p.Gly66Ala), rs200569294, ClinGen CA3735892, ClinVar RCV002423658, ClinVar RCV003324856, REVEL 0.29, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not provided; Ehlers-Danlos syndrome due to tenascin-X
- G66E (p.Gly66Glu), 1000Genomes rs200569294, ESP rs200569294, ExAC rs200569294, TOPMed rs200569294, REVEL 0.44, ESM-1b 0.00, Likely benign
- G67E (p.Gly67Glu), NCI-TCGA Cosmic COSV6447, cosmic curated COSV64476, ESM-1b 0.13, AlphaMissense 0.34, Variant assessed as somatic; moderate impact.
- E68D (p.Glu68Asp), cosmic curated COSV64484, NCI-TCGA Cosmic COSV6448, cosmic curated COSV64482, ESM-1b 0.00, AlphaMissense 0.46, Uncertain significance, not provided
- E68Q (p.Glu68Gln), rs2483772276, ClinGen CA363492507, ClinVar RCV004524369, ESM-1b 0.00, AlphaMissense 0.30, Uncertain significance, Cardiovascular phenotype
- K69E (p.Lys69Glu), cosmic curated COSV64482, ESM-1b 0.00, AlphaMissense 0.64
- K69N (p.Lys69Asn), ExAC rs766241196, gnomAD rs766241196, REVEL 0.25, ESM-1b 0.00
- K69R (p.Lys69Arg), gnomAD rs1297022056, REVEL 0.36, ESM-1b 0.00
- Q70P (p.Gln70Pro), ESP rs199581373, ExAC rs199581373, TOPMed rs199581373, gnomAD rs199581373, REVEL 0.67, ESM-1b 1.00, Uncertain significance
- Q70R (p.Gln70Arg), rs199581373, ClinGen CA3735889, ClinVar RCV001776627, ClinVar RCV002276890, REVEL 0.60, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- V71L (p.Val71Leu), rs201922477, ClinGen CA3735888, ClinVar RCV000585373, ClinVar RCV002418132, REVEL 0.35, ESM-1b 1.00, Uncertain significance, Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-X deficiency; TN
- F73L (p.Phe73Leu), ExAC rs773801243, gnomAD rs773801243, REVEL 0.71, ESM-1b 1.00
- T74P (p.Thr74Pro), TOPMed rs1780507978, ESM-1b 1.00, AlphaMissense 0.64
- H75N (p.His75Asn), cosmic curated COSV10092, ESM-1b 1.00, AlphaMissense 0.80
- R76C (p.Arg76Cys), rs768199265, ClinGen CA3735885, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, REVEL 0.74, ESM-1b 1.00, Uncertain significance, not specified; Cardiovascular phenotype
- R76H (p.Arg76His), rs748739924, ExAC rs748739924, TOPMed rs748739924, gnomAD rs748739924, REVEL 0.75, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- L79M (p.Leu79Met), rs780737052, ClinGen CA363492303, ClinVar RCV001768749, ExAC rs780737052, ESM-1b 1.00, AlphaMissense 0.40, Uncertain significance, not provided
- P81L (p.Pro81Leu), ExAC rs757484516, TOPMed rs757484516, gnomAD rs757484516, REVEL 0.25, ESM-1b 0.70, Uncertain significance, Cardiovascular phenotype
- P81R (p.Pro81Arg), ExAC rs757484516, TOPMed rs757484516, gnomAD rs757484516, REVEL 0.18, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- P81S (p.Pro81Ser), rs746282620, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, ExAC rs746282620, REVEL 0.08, ESM-1b 0.37, Variant assessed as somatic; moderate impact.
- S82F (p.Ser82Phe), NCI-TCGA Cosmic COSV6448, cosmic curated COSV64488, TOPMed rs1780506441, ESM-1b 1.00, AlphaMissense 0.31, Variant assessed as somatic; moderate impact.
- T83A (p.Thr83Ala), gnomAD rs1246467263, REVEL 0.12, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- G86D (p.Gly86Asp), NCI-TCGA Cosmic COSV6449, cosmic curated COSV64490, REVEL 0.41, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G86S (p.Gly86Ser), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- C87S (p.Cys87Ser), TOPMed rs971564159, ESM-1b 0.95, AlphaMissense 0.95
- C87W (p.Cys87Trp), ExAC rs747238301, gnomAD rs747238301, REVEL 0.56, ESM-1b 1.00
- C87Y (p.Cys87Tyr), TOPMed rs971564159, REVEL 0.80, ESM-1b 1.00
- P88L (p.Pro88Leu), cosmic curated COSV64489, ESM-1b 0.00, AlphaMissense 0.13
- P88S (p.Pro88Ser), gnomAD rs1448988045, REVEL 0.18, ESM-1b 0.00
- P89A (p.Pro89Ala), cosmic curated COSV64479, ESM-1b 0.00, AlphaMissense 0.07
- P89L (p.Pro89Leu), Ensembl rs2127294185, ESM-1b 0.00, AlphaMissense 0.13
- T91I (p.Thr91Ile), ExAC rs758481959, TOPMed rs758481959, gnomAD rs758481959, REVEL 0.24, ESM-1b 0.69, Uncertain significance, Cardiovascular phenotype
- E92K (p.Glu92Lys), rs766329025, ExAC rs766329025, TOPMed rs766329025, gnomAD rs766329025, REVEL 0.36, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P93S (p.Pro93Ser), rs539922100, ClinGen CA3735872, cosmic curated COSV64488, ClinVar RCV002439714, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P93T (p.Pro93Thr), ExAC rs539922100, TOPMed rs539922100, gnomAD rs539922100, REVEL 0.41, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P94L (p.Pro94Leu), cosmic curated COSV10653, REVEL 0.49, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- P94R (p.Pro94Arg), Ensembl rs1035693703, REVEL 0.41, ESM-1b 0.00
- P94S (p.Pro94Ser), rs767342071, NCI-TCGA Cosmic COSV6448, cosmic curated COSV64489, ExAC rs767342071, REVEL 0.29, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- L96F (p.Leu96Phe), NCI-TCGA Cosmic COSV6447, cosmic curated COSV64474, REVEL 0.18, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- L96H (p.Leu96His), rs1780503217, ClinGen CA363491935, ClinVar RCV001280956, TOPMed rs1780503217, REVEL 0.23, ESM-1b 1.00, Uncertain significance, Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8
- L96P (p.Leu96Pro), TOPMed rs1780503217, ESM-1b 0.00, AlphaMissense 0.03, Likely benign, Cardiovascular phenotype
- A97T (p.Ala97Thr), rs1024919515, ClinGen CA136908394, ClinVar RCV002438024, ClinVar RCV004763418, REVEL 0.35, ESM-1b 0.05, Uncertain significance, not provided; Cardiovascular phenotype
- A97V (p.Ala97Val), rs376816337, ClinGen CA3735870, ClinVar RCV004475798, ESP rs376816337, REVEL 0.37, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- S98L (p.Ser98Leu), rs1376714004, ClinGen CA363491886, ClinVar RCV004475799, gnomAD rs1376714004, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- S98P (p.Ser98Pro), rs1562879498, ClinGen CA363491902, ClinVar RCV004524380, Ensembl rs1562879498, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- V100L (p.Val100Leu), TOPMed rs1176134021, gnomAD rs1176134021, REVEL 0.30, ESM-1b 0.00
- Q101E (p.Gln101Glu), Ensembl rs1562879471, REVEL 0.31, ESM-1b 1.00
- A102S (p.Ala102Ser), Ensembl rs1780501485, ESM-1b 0.00, AlphaMissense 0.11
- A102V (p.Ala102Val), NCI-TCGA Cosmic COSV6447, cosmic curated COSV64478, ESM-1b 1.00, AlphaMissense 0.30, Variant assessed as somatic; moderate impact.
- L103P (p.Leu103Pro), Ensembl rs1780500935, REVEL 0.94, ESM-1b 1.00
- L103V (p.Leu103Val), Ensembl rs1003249117, REVEL 0.71, ESM-1b 1.00
- R104G (p.Arg104Gly), rs774066587, ClinGen CA3735869, ClinVar RCV001752086, ExAC rs774066587, REVEL 0.31, ESM-1b 1.00, Uncertain significance, not provided
- R104K (p.Arg104Lys), NCI-TCGA Cosmic COSV6447, NCI-TCGA Cosmic COSV6448, cosmic curated COSV64489, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- R104M (p.Arg104Met), cosmic curated COSV64479, REVEL 0.37, ESM-1b 1.00
- R106C (p.Arg106Cys), rs1189846234, ClinGen CA363491698, cosmic curated COSV64477, ClinVar RCV002322613, REVEL 0.60, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- R106G (p.Arg106Gly), rs1189846234, ClinGen CA363491699, ClinVar RCV003310222, TOPMed rs1189846234, REVEL 0.66, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- R106H (p.Arg106His), cosmic curated COSV64483, 1000Genomes rs543374339, ExAC rs543374339, TOPMed rs543374339, REVEL 0.64, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- R106L (p.Arg106Leu), rs543374339, ClinGen CA3735868, ClinVar RCV002322733, 1000Genomes rs543374339, REVEL 0.59, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- L107I (p.Leu107Ile), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10092, ESM-1b 1.00, AlphaMissense 0.41, Variant assessed as somatic; moderate impact.
- E108D (p.Glu108Asp), TOPMed rs1027321958, gnomAD rs1027321958, ESM-1b 1.00, AlphaMissense 0.43
- I109S (p.Ile109Ser), rs2483770767, ClinGen CA363491641, ClinVar RCV002325002, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- E111K (p.Glu111Lys), TOPMed rs1780499321, REVEL 0.74, ESM-1b 1.00
- E111Q (p.Glu111Gln), TOPMed rs1780499321, ESM-1b 1.00, AlphaMissense 0.34
- L113S (p.Leu113Ser), cosmic curated COSV64480, ESM-1b 1.00, AlphaMissense 0.87
- V114M (p.Val114Met), cosmic curated COSV10593, ESM-1b 1.00, AlphaMissense 0.67
- G116A (p.Gly116Ala), TOPMed rs1216124530, gnomAD rs1216124530, REVEL 0.28, ESM-1b 0.00
- G116E (p.Gly116Glu), TOPMed rs1216124530, gnomAD rs1216124530, ESM-1b 1.00, AlphaMissense 0.33
- G116R (p.Gly116Arg), Ensembl rs1780499152, REVEL 0.41, ESM-1b 1.00
- G116V (p.Gly116Val), TOPMed rs1216124530, gnomAD rs1216124530, ESM-1b 0.00, AlphaMissense 0.39
- Q120E (p.Gln120Glu), ExAC rs775116960, gnomAD rs775116960, REVEL 0.22, ESM-1b 1.00
- T122A (p.Thr122Ala), TOPMed rs1411732850, gnomAD rs1411732850, REVEL 0.18, ESM-1b 0.00
- T122I (p.Thr122Ile), cosmic curated COSV10972, ESM-1b 1.00, AlphaMissense 0.17
- T122P (p.Thr122Pro), TOPMed rs1411732850, gnomAD rs1411732850, REVEL 0.31, ESM-1b 1.00
- G124E (p.Gly124Glu), TOPMed rs1780497714, ESM-1b 1.00, AlphaMissense 0.31
- C125Y (p.Cys125Tyr), ExAC rs770463109, TOPMed rs770463109, gnomAD rs770463109, REVEL 0.40, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- P127A (p.Pro127Ala), ExAC rs746370739, TOPMed rs746370739, gnomAD rs746370739, REVEL 0.20, ESM-1b 0.00
- P127R (p.Pro127Arg), rs776915229, ClinGen CA3735863, ClinVar RCV002355227, ExAC rs776915229, ESM-1b 0.45, AlphaMissense 0.23, Uncertain significance, Cardiovascular phenotype
- A128V (p.Ala128Val), Ensembl rs1562879346, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- A130D (p.Ala130Asp), TOPMed rs1339074585, ESM-1b 1.00, AlphaMissense 0.59
- A130T (p.Ala130Thr), ExAC rs771337502, gnomAD rs771337502, REVEL 0.40, ESM-1b 0.09
- A130V (p.Ala130Val), TOPMed rs1339074585, REVEL 0.38, ESM-1b 0.00
- A132T (p.Ala132Thr), ExAC rs747265735, gnomAD rs747265735, REVEL 0.14, ESM-1b 0.00
- A132V (p.Ala132Val), Ensembl rs1363532755, REVEL 0.22, ESM-1b 0.00
- Q136K (p.Gln136Lys), gnomAD rs1445017304, REVEL 0.15, ESM-1b 1.00
- Q136P (p.Gln136Pro), rs2483767587, ClinGen CA363489147, ClinVar RCV003368216, ESM-1b 1.00, AlphaMissense 0.45, Uncertain significance, Cardiovascular phenotype
- T137I (p.Thr137Ile), rs2127293541, ClinGen CA363489103, ClinVar RCV002222773, Ensembl rs2127293541, ESM-1b 0.00, AlphaMissense 0.68, Uncertain significance, not provided
- D138N (p.Asp138Asn), gnomAD rs1170412765, ESM-1b 1.00, AlphaMissense 0.33
- V139L (p.Val139Leu), ExAC rs775204788, gnomAD rs775204788, REVEL 0.09, ESM-1b 0.00
- R140L (p.Arg140Leu), rs758876550, ClinGen CA3735848, ClinVar RCV002327834, ExAC rs758876550, REVEL 0.37, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- R140P (p.Arg140Pro), ExAC rs758876550, TOPMed rs758876550, gnomAD rs758876550, REVEL 0.35, ESM-1b 1.00, Uncertain significance
- R140Q (p.Arg140Gln), rs758876550, ClinGen CA136906876, ClinVar RCV002327831, ClinVar RCV005419439, REVEL 0.24, ESM-1b 0.97, Uncertain significance, not specified; Cardiovascular phenotype
- R140W (p.Arg140Trp), rs1420372911, ClinGen CA363489046, ClinVar RCV000519614, TOPMed rs1420372911, REVEL 0.35, ESM-1b 1.00, Uncertain significance, not provided
- T141A (p.Thr141Ala), TOPMed rs1780477817, gnomAD rs1780477817, REVEL 0.07, ESM-1b 0.00
- T141N (p.Thr141Asn), cosmic curated COSV10092, REVEL 0.03, ESM-1b 0.49
- L142R (p.Leu142Arg), cosmic curated COSV64481, ESM-1b 1.00, AlphaMissense 0.56
- L142V (p.Leu142Val), ExAC rs758908709, gnomAD rs758908709, REVEL 0.20, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- C143G (p.Cys143Gly), Ensembl rs2127293500, ESM-1b 1.00, AlphaMissense 0.95
- C143Y (p.Cys143Tyr), rs1178974021, gnomAD rs1178974021, REVEL 0.79, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S144N (p.Ser144Asn), gnomAD rs1237423218, REVEL 0.29, ESM-1b 0.00
- S144T (p.Ser144Thr), gnomAD rs1237423218, REVEL 0.43, ESM-1b 1.00
Public TNXB analysis runs
- TNXB analysis run — TNXB (5,920 variants) — completed 2026-10-09