TGFB2 (P61812) variants and mutations
TGFB2 (also known as P61812) is a human protein-coding gene encoding a transforming growth factor beta-2 proprotein protein. Its secreted signaling regulates extracellular matrix, cell differentiation, proliferation, and cardiovascular development. Haploinsufficiency causes a Loeys-Dietz-spectrum connective-tissue disorder with increased risk of thoracic aortic aneurysm and dissection. This analysis covers 836 TGFB2 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4, and Loeys-Dietz syndrome. Example TGFB2 variants include M1?, H2L, and H2R.
Variant analysis overview
- Gene: TGFB2
- Protein: P61812
- UniProt accession: P61812
- Organism: Homo sapiens
- Variants analyzed: 836
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 591 unspecified-consequence records; 110 synonymous variants; 117 missense variants; 6 stop-gained variants; 1 in-frame insertions; 3 in-frame deletions; 3 frameshift variants; 2 splice-region variants; 3 substitution
- Prediction scores: 572 variants have prediction scores (68% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4, Loeys-Dietz syndrome, myelodysplastic syndrome, anemia, Rare disease with thoracic aortic aneurysm and aortic dissection, atrial fibrillation, anemia (phenotype), Familial hemophagocytic lymphohistiocytosis, Beta-thalassemia, hypertensive disorder, Inguinal hernia.
Protein structure and variant hotspots
- Protein features: 3 post-translational modification sites.
- PTM context: 4 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, MaveDB, LitVar.
Notable TGFB2 variants
Examples include M1?, H2L, H2R, H2H, Y3H, C4S, C4Y, V5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10085, Variant assessed as somatic; high impact.
- H2L (p.His2Leu), cosmic curated COSV10453
- H2R (p.His2Arg), cosmic curated COSV65108, 1000Genomes rs187697359, ExAC rs187697359, gnomAD rs187697359, REVEL 0.25, CADD 22.40, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- H2H (p.His2His), rs771462152, gnomAD 1-218346707-C-T, CADD 13.30
- Y3H (p.Tyr3His), gnomAD 1-218346708-T-C, REVEL 0.18, CADD 23.30
- C4S (p.Cys4Ser), Ensembl rs555397495
- C4Y (p.Cys4Tyr), rs776628524, ClinGen CA1398359, ClinVar RCV001799140, ClinVar RCV002541316, REVEL 0.18, CADD 22.90, Likely benign, Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- V5L (p.Val5Leu), rs1571820552, ClinGen CA344725097, ClinVar RCV001824377, Ensembl rs1571820552, Uncertain significance, Loeys-Dietz syndrome 4
- L6P (p.Leu6Pro), rs1553292060, ClinGen CA344725105, ClinVar RCV001824352, ClinVar RCV004817834, Uncertain significance, not provided; Loeys-Dietz syndrome 4
- L6L (p.Leu6Leu), rs759598088, gnomAD 1-218346717-C-T, CADD 13.50
- S7G (p.Ser7Gly), rs2464548209, ClinGen CA344725108, ClinVar RCV003018296, Uncertain significance, Loeys-Dietz syndrome 4
- S7N (p.Ser7Asn), ExAC rs765477784, gnomAD rs765477784, REVEL 0.16, CADD 22.70, Uncertain significance
- S7R (p.Ser7Arg), TOPMed rs1558219899, REVEL 0.14, CADD 17.10
- S7T (p.Ser7Thr), rs765477784, ClinGen CA344725111, ClinVar RCV001824440, ExAC rs765477784, Uncertain significance, Loeys-Dietz syndrome 4
- A8S (p.Ala8Ser), rs752870701, ClinGen CA1398362, ClinVar RCV004508498, ExAC rs752870701, REVEL 0.12, CADD 23.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A8T (p.Ala8Thr), rs752870701, ClinGen CA344725114, ClinVar RCV004474510, ClinVar RCV005104748, REVEL 0.12, CADD 22.70, Uncertain significance, Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- A8V (p.Ala8Val), ExAC rs763141894, TOPMed rs763141894, REVEL 0.07, CADD 15.20
- F9L (p.Phe9Leu), gnomAD 1-218346726-T-C, REVEL 0.07, CADD 16.00
- L10R (p.Leu10Arg), gnomAD 1-218346730-T-G, REVEL 0.66, CADD 30.00
- I11L (p.Ile11Leu), rs2464548298, ClinGen CA344725131, ClinVar RCV004312644, Likely benign, Familial thoracic aortic aneurysm and aortic dissection
- I11T (p.Ile11Thr), cosmic curated COSV65111
- I11V (p.Ile11Val), cosmic curated COSV10610
- I11F (p.Ile11Phe), gnomAD 1-218346732-A-T, REVEL 0.17, CADD 7.79
- L12L (p.Leu12Leu), rs1656692866, gnomAD 1-218346735-C-T, CADD 14.10
- H13L (p.His13Leu), gnomAD rs1656693157, Uncertain significance
- H13N (p.His13Asn), rs763918203, ClinGen CA1398364, ClinVar RCV000347838, ClinVar RCV003422214, REVEL 0.13, CADD 19.70, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; TGFB2-related disorder
- H13P (p.His13Pro), cosmic curated COSV10086
- H13R (p.His13Arg), rs1656693157, ClinGen CA344725146, ClinVar RCV003833856, gnomAD rs1656693157, REVEL 0.09, CADD 21.20, Uncertain significance, Loeys-Dietz syndrome 4
- H13D (p.His13Asp), gnomAD 1-218346738-C-G, REVEL 0.12, CADD 20.90
- H13H (p.His13His), rs1414431711, gnomAD 1-218346740-T-C, CADD 13.70
- L14L (p.Leu14Leu), rs1407180803, gnomAD 1-218346741-C-T, CADD 13.70
- V15F (p.Val15Phe), TOPMed rs1656693489
- V15V (p.Val15Val), gnomAD 1-218346746-C-A, CADD 12.70
- T16A (p.Thr16Ala), gnomAD rs1423446403, REVEL 0.12, CADD 16.30
- T16M (p.Thr16Met), TOPMed rs1173342696
- V17I (p.Val17Ile), gnomAD rs1334873734, REVEL 0.20, CADD 23.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- V17V (p.Val17Val), rs549320294, gnomAD 1-218346752-C-T, CADD 7.75
- A18S (p.Ala18Ser), rs886045975, ClinGen CA344725174, ClinVar RCV001921010, TOPMed rs886045975, REVEL 0.29, CADD 23.00, Uncertain significance, Loeys-Dietz syndrome 4
- A18T (p.Ala18Thr), rs886045975, ClinGen CA10609115, cosmic curated COSV10442, ClinVar RCV000395786, REVEL 0.36, CADD 23.60, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided; Loeys-Die
- A18V (p.Ala18Val), rs757201195, ClinGen CA1398366, ClinVar RCV003358379, ClinVar RCV006472439, REVEL 0.25, CADD 22.70, Uncertain significance, Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- A18A (p.Ala18Ala), gnomAD 1-218346755-G-A, CADD 15.50
- L19F (p.Leu19Phe), TOPMed rs1305579825, gnomAD rs1305579825, REVEL 0.20, CADD 21.80
- L19P (p.Leu19Pro), Ensembl rs1656694865, REVEL 0.66, CADD 26.40
- L19R (p.Leu19Arg), Ensembl rs1656694865
- L19L (p.Leu19Leu), rs1224916923, gnomAD 1-218346758-C-T, CADD 13.30
- S20N (p.Ser20Asn), rs1656695125, ClinGen CA344725186, ClinVar RCV001824402, gnomAD rs1656695125, Uncertain significance, Loeys-Dietz syndrome 4
- S20T (p.Ser20Thr), rs1656695125, ClinGen CA344725187, ClinVar RCV003332010, ClinVar RCV005103940, REVEL 0.11, CADD 23.20, Uncertain significance, not specified; Loeys-Dietz syndrome 4
- S20G (p.Ser20Gly), gnomAD 1-218346759-A-G, REVEL 0.03, CADD 21.40
- L21L (p.Leu21Leu), rs1263352886, gnomAD 1-218346762-C-T, CADD 14.40
- T23A (p.Thr23Ala), gnomAD rs1656695458, REVEL 0.47, CADD 25.00, Uncertain significance, not provided
- T23T (p.Thr23Thr), rs1460625202, gnomAD 1-218346770-C-T, CADD 14.90
- C24W (p.Cys24Trp), gnomAD rs1656695666, REVEL 0.67, CADD 29.90, Uncertain significance, Loeys-Dietz syndrome 4
- S25N (p.Ser25Asn), cosmic curated COSV65110, REVEL 0.10, CADD 22.90
- S25R (p.Ser25Arg), rs2464548677, ClinGen CA344725216, ClinVar RCV002380505, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- S25S (p.Ser25Ser), rs1201221068, gnomAD 1-218346776-C-T, CADD 15.80
- T26A (p.Thr26Ala), cosmic curated COSV10820, REVEL 0.20, CADD 24.00
- T26I (p.Thr26Ile), cosmic curated COSV65110
- T26K (p.Thr26Lys), TOPMed rs1656695911
- T26T (p.Thr26Thr), rs755643964, gnomAD 1-218346779-A-C, CADD 13.80
- L27F (p.Leu27Phe), TOPMed rs1209272897, REVEL 0.39, CADD 24.00
- L27I (p.Leu27Ile), rs1209272897, ClinGen CA344725230, ClinVar RCV002595233, Uncertain significance, Loeys-Dietz syndrome 4
- L27L (p.Leu27Leu), gnomAD 1-218346782-C-A, CADD 12.90
- D28G (p.Asp28Gly), NCI-TCGA TCGA novel, REVEL 0.71, CADD 32.00, Uncertain significance, Loeys-Dietz syndrome 4; not provided
- D28H (p.Asp28His), cosmic curated COSV10453
- D28Y (p.Asp28Tyr), gnomAD 1-218346783-G-T, REVEL 0.69, CADD 32.00
- M29T (p.Met29Thr), gnomAD 1-218346787-T-C, REVEL 0.54, CADD 24.80
- D30N (p.Asp30Asn), NCI-TCGA TCGA novel, Ensembl rs1571820699, Variant assessed as somatic; moderate impact.
- Q31* (p.Gln31Ter), cosmic curated COSV65109
- Q31K (p.Gln31Lys), TOPMed rs1656696314
- Q31L (p.Gln31Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q31Q (p.Gln31Gln), gnomAD 1-218346794-G-A, CADD 14.40
- F32L (p.Phe32Leu), rs779872141, ClinGen CA1398370, ClinVar RCV001929377, ExAC rs779872141, REVEL 0.13, CADD 23.80, Uncertain significance, Loeys-Dietz syndrome 4
- F32Y (p.Phe32Tyr), gnomAD 1-218346796-T-A, REVEL 0.15, CADD 23.00
- M33I (p.Met33Ile), ExAC rs748995213, gnomAD rs748995213, REVEL 0.27, CADD 23.60
- M33R (p.Met33Arg), rs1558220002, ClinGen CA344725281, ClinVar RCV000769553, Ensembl rs1558220002, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- R34C (p.Arg34Cys), rs1571820734, ClinGen CA344725286, cosmic curated COSV65109, ClinVar RCV001824381, Uncertain significance, Loeys-Dietz syndrome 4
- R34H (p.Arg34His), rs1064796462, ClinGen CA16617062, cosmic curated COSV65110, ClinVar RCV000484113, Uncertain significance, Loeys-Dietz syndrome 4; not provided
- R34S (p.Arg34Ser), cosmic curated COSV10085, REVEL 0.23, CADD 23.00
- R34P (p.Arg34Pro), gnomAD 1-218346802-G-C, REVEL 0.39, CADD 32.00
- R34R (p.Arg34Arg), gnomAD 1-218346803-C-G, CADD 14.60
- K35A (p.Lys35Ala), gnomAD 1-218346802-G-GGG, CADD 34.00
- K35E (p.Lys35Glu), gnomAD 1-218346804-A-G, REVEL 0.50, CADD 32.00
- K35Q (p.Lys35Gln), gnomAD 1-218346804-A-C, REVEL 0.49, CADD 31.00
- K35K (p.Lys35Lys), gnomAD 1-218346806-G-A, CADD 14.90
- R36G (p.Arg36Gly), UniProt VAR 091115, Uncertain significance, Loeys-Dietz syndrome 4
- R36S (p.Arg36Ser), UniProt VAR 091116, Pathogenic, in CAEND2
- R36R (p.Arg36Arg), rs10482720, gnomAD 1-218346807-A-C, CADD 16.40
- I37M (p.Ile37Met), rs1440677621, ClinGen CA344725310, ClinVar RCV003876676, REVEL 0.52, CADD 26.70, Uncertain significance, Loeys-Dietz syndrome 4
- I37V (p.Ile37Val), cosmic curated COSV65108
- I37L (p.Ile37Leu), gnomAD 1-218346810-A-C, REVEL 0.38, CADD 26.60
- I37I (p.Ile37Ile), rs1440677621, gnomAD 1-218346812-C-T, CADD 15.60
- E38K (p.Glu38Lys), rs1656697535, ClinGen CA344725311, ClinVar RCV002320594, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E38Q (p.Glu38Gln), rs1656697535, ClinGen CA344725312, ClinVar RCV002731634, Ensembl rs1656697535, REVEL 0.56, CADD 29.20, Uncertain significance, Loeys-Dietz syndrome 4
- E38* (p.Glu38Ter), gnomAD 1-218346813-G-T, CADD 37.00
- E38A (p.Glu38Ala), gnomAD 1-218346814-A-C, REVEL 0.73, CADD 32.00
- E38G (p.Glu38Gly), gnomAD 1-218346814-A-G, REVEL 0.76, CADD 32.00
- E38E (p.Glu38Glu), rs149215818, gnomAD 1-218346815-G-A, CADD 14.20
- A39V (p.Ala39Val), rs2102527478, ClinGen CA344725324, ClinVar RCV001983867, Ensembl rs2102527478, Uncertain significance, Loeys-Dietz syndrome 4
- I40N (p.Ile40Asn), rs2102527486, ClinGen CA344725328, ClinVar RCV001763662, ClinVar RCV004671432, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; not provided
- R41C (p.Arg41Cys), rs2464549130, ClinGen CA344725333, ClinVar RCV004508495, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- G42E (p.Gly42Glu), rs1558220033, ClinGen CA344725341, ClinVar RCV001939222, Ensembl rs1558220033, REVEL 0.69, CADD 32.00, Uncertain significance, Loeys-Dietz syndrome 4
- G42R (p.Gly42Arg), cosmic curated COSV65108, REVEL 0.67, CADD 32.00
- G42G (p.Gly42Gly), rs1199107727, gnomAD 1-218346827-G-A, CADD 15.10
- Q43* (p.Gln43Ter), rs2464549208, ClinGen CA344725346, ClinVar RCV002471415, Pathogenic
- I44M (p.Ile44Met), Ensembl rs1656698299
- S46N (p.Ser46Asn), rs1318854254, ClinGen CA344725369, ClinVar RCV001902389, TOPMed rs1318854254, Uncertain significance, Loeys-Dietz syndrome 4
- S46R (p.Ser46Arg), cosmic curated COSV65111
- S46S (p.Ser46Ser), rs373790376, gnomAD 1-218346839-C-T, CADD 15.60
- L48R (p.Leu48Arg), rs1553292088, ClinGen CA344725383, cosmic curated COSV10591, ClinVar RCV000786410, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Die
- K49* (p.Lys49Ter), rs2102527516, ClinGen CA344725387, ClinVar RCV002007198, ClinVar RCV004801106, Pathogenic
- K49R (p.Lys49Arg), gnomAD 1-218346847-A-G, REVEL 0.21, CADD 22.50
- K49K (p.Lys49Lys), rs1656699232, gnomAD 1-218346848-G-A, CADD 14.30
- L50V (p.Leu50Val), gnomAD 1-218346849-C-G, REVEL 0.60, CADD 25.40
- L50L (p.Leu50Leu), gnomAD 1-218346851-C-T, CADD 14.90
- T51I (p.Thr51Ile), rs1656699420, ClinGen CA344725404, ClinVar RCV003038983, REVEL 0.19, CADD 24.50, Uncertain significance, Loeys-Dietz syndrome 4
- T51N (p.Thr51Asn), Ensembl rs1656699420, REVEL 0.06, CADD 20.70
- T51P (p.Thr51Pro), gnomAD 1-218346852-A-C, REVEL 0.19, CADD 25.20
- S52G (p.Ser52Gly), rs771351240, ClinGen CA1398374, cosmic curated COSV65110, ClinVar RCV000524041, REVEL 0.35, CADD 28.80, Uncertain significance, not provided; Loeys-Dietz syndrome 4
- S52R (p.Ser52Arg), rs1431335293, ClinGen CA344725410, ClinVar RCV001903650, ClinVar RCV004822956, REVEL 0.38, CADD 25.00, Uncertain significance, not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort
- S52T (p.Ser52Thr), ExAC rs777159486, gnomAD rs777159486
- P53L (p.Pro53Leu), rs745960678, ExAC rs745960678, gnomAD rs745960678, Variant assessed as somatic; moderate impact.
- P53S (p.Pro53Ser), NCI-TCGA TCGA novel, Ensembl rs1656700052, REVEL 0.46, CADD 25.10, Variant assessed as somatic; moderate impact.
- P53P (p.Pro53Pro), gnomAD 1-218346860-C-T, CADD 15.40
- P54P (p.Pro54Pro), rs769913843, gnomAD 1-218346863-A-G, CADD 12.20
- E55A (p.Glu55Ala), rs1656700353, ClinGen CA344725427, ClinVar RCV004508497, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- E55G (p.Glu55Gly), rs1656700353, ClinGen CA344725426, ClinVar RCV002045934, Ensembl rs1656700353, Uncertain significance, Loeys-Dietz syndrome 4
- E55R (p.Glu55Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- D56N (p.Asp56Asn), cosmic curated COSV10528
- Y57* (p.Tyr57Ter), rs897070997, ClinGen CA344725444, ClinVar RCV002037791, Ensembl rs897070997, Pathogenic
- P58L (p.Pro58Leu), rs1656700665, ClinGen CA344725451, ClinVar RCV002620695, ClinVar RCV003162001, REVEL 0.15, CADD 23.00, Uncertain significance, Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- P58S (p.Pro58Ser), rs1359839189, ClinGen CA344725448, ClinVar RCV003862465, gnomAD rs1359839189, REVEL 0.12, CADD 22.00, Uncertain significance, Loeys-Dietz syndrome 4
- P58P (p.Pro58Pro), rs775518697, gnomAD 1-218346875-T-G, CADD 7.27
- E59G (p.Glu59Gly), rs2464549647, ClinGen CA344725455, ClinVar RCV002407655, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- P60S (p.Pro60Ser), gnomAD 1-218346879-C-T, REVEL 0.20, CADD 26.70
- P60L (p.Pro60Leu), gnomAD 1-218346880-C-T, REVEL 0.42, CADD 23.90
- E61D (p.Glu61Asp), ExAC rs764288352, TOPMed rs764288352, gnomAD rs764288352, Likely benign
- E61K (p.Glu61Lys), rs763228811, ClinGen CA1398379, ClinVar RCV001762808, ClinVar RCV006616527, REVEL 0.17, CADD 23.30, Uncertain significance, Loeys-Dietz syndrome 4; not provided; not specified
- E61E (p.Glu61Glu), rs764288352, gnomAD 1-218346884-G-A, CADD 13.20
- E62E (p.Glu62Glu), gnomAD 1-218346887-A-G, CADD 11.20
- V63G (p.Val63Gly), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10085, Variant assessed as somatic; moderate impact.
- V63L (p.Val63Leu), gnomAD 1-218346888-G-C, REVEL 0.26, CADD 25.60
- V63V (p.Val63Val), rs774030175, gnomAD 1-218346890-C-A, CADD 9.06
- P64L (p.Pro64Leu), rs1317014757, ClinGen CA344725491, ClinVar RCV003172118, ClinVar RCV006473852, REVEL 0.65, CADD 28.90, Uncertain significance, Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- P64S (p.Pro64Ser), ExAC rs761602500, gnomAD rs761602500, REVEL 0.33, CADD 22.70, Uncertain significance, not provided
- P64P (p.Pro64Pro), gnomAD 1-218346893-C-T, CADD 15.40
- P65A (p.Pro65Ala), ExAC rs747128130, TOPMed rs747128130, gnomAD rs747128130, REVEL 0.04, CADD 17.50, Uncertain significance
- P65L (p.Pro65Leu), rs750324465, ClinGen CA324601, ClinVar RCV000200048, ClinVar RCV000765072, REVEL 0.09, CADD 21.50, Uncertain significance, not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort
- P65Q (p.Pro65Gln), NCI-TCGA Cosmic COSV6511, Variant assessed as somatic; moderate impact.
- P65S (p.Pro65Ser), rs747128130, ClinGen CA1398383, ClinVar RCV001824330, ClinVar RCV002413476, REVEL 0.03, CADD 19.50, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 4
- P65P (p.Pro65Pro), rs1656701921, gnomAD 1-218346896-G-A, CADD 14.70
- E66A (p.Glu66Ala), gnomAD rs1202024276, REVEL 0.24, CADD 24.00
- p.Glu66dup, rs1656702122, gnomAD 1-218346895-C-CGG, CADD 20.60
- V67M (p.Val67Met), rs201761868, ClinGen CA325359, ClinVar RCV000200774, ClinVar RCV000765073, REVEL 0.27, CADD 29.20, Conflicting interpretations, Ehlers-Danlos syndrome; not specified; Loeys-Dietz syndrome 4
- I68T (p.Ile68Thr), Ensembl rs1656702547, REVEL 0.36, CADD 25.60
- S69S (p.Ser69Ser), rs1333786004, gnomAD 1-218346908-C-T, CADD 15.70
- I70T (p.Ile70Thr), rs1027195424, ClinGen CA16610001, ClinVar RCV001824320, ClinVar RCV002418380, REVEL 0.71, CADD 25.80, Uncertain significance, Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- I70V (p.Ile70Val), rs1656702743, ClinGen CA344725523, ClinVar RCV001824442, Ensembl rs1656702743, REVEL 0.16, CADD 23.90, Uncertain significance, Loeys-Dietz syndrome 4
- Y71* (p.Tyr71Ter), rs766024374, ClinGen CA16603523, ClinVar RCV000428017, ExAC rs766024374, Pathogenic
- Y71C (p.Tyr71Cys), gnomAD 1-218346913-A-G, REVEL 0.91, CADD 32.00
- Y71Y (p.Tyr71Tyr), rs766024374, gnomAD 1-218346914-C-T, CADD 13.90
- N72K (p.Asn72Lys), gnomAD 1-218346917-C-A, REVEL 0.51, CADD 26.30
- S73G (p.Ser73Gly), rs753391734, ClinGen CA1398385, ClinVar RCV002100483, ExAC rs753391734, REVEL 0.65, CADD 32.00, Likely benign, Loeys-Dietz syndrome 4
- S73T (p.Ser73Thr), rs920940168, ClinGen CA37544621, ClinVar RCV003648246, Ensembl rs920940168, Uncertain significance, Loeys-Dietz syndrome 4
- S73I (p.Ser73Ile), gnomAD 1-218346919-G-T, REVEL 0.72, CADD 32.00
- T74S (p.Thr74Ser), TOPMed rs1400029652
- T74A (p.Thr74Ala), gnomAD 1-218346921-A-G, REVEL 0.68, CADD 31.00
- T74T (p.Thr74Thr), gnomAD 1-218346923-C-G, CADD 12.90
- R75M (p.Arg75Met), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10085, Variant assessed as somatic; moderate impact.
- D76D (p.Asp76Asp), gnomAD 1-218346929-C-T, CADD 15.00
- L77V (p.Leu77Val), gnomAD 1-218346930-T-G, REVEL 0.46, CADD 24.90
- L77S (p.Leu77Ser), gnomAD 1-218346931-T-C, REVEL 0.80, CADD 32.00
- L78P (p.Leu78Pro), Ensembl rs2102527687
- L78L (p.Leu78Leu), rs754731424, gnomAD 1-218346935-C-T, CADD 11.90
- Q79K (p.Gln79Lys), cosmic curated COSV10085
- Q79R (p.Gln79Arg), rs371241859, ClinGen CA320534, ClinVar RCV000196118, ClinVar RCV001824298, REVEL 0.16, CADD 23.30, Uncertain significance, not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort
- Q79L (p.Gln79Leu), gnomAD 1-218346937-A-T, REVEL 0.15, CADD 23.70
- Q79P (p.Gln79Pro), gnomAD 1-218346937-A-C, REVEL 0.33, CADD 28.70
- E80* (p.Glu80Ter), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10086, Variant assessed as somatic; high impact.
- E80del (p.Glu80del), rs1401336138, gnomAD 1-218346936-CAGG-, CADD 22.60
- E80G (p.Glu80Gly), gnomAD 1-218346940-A-G, REVEL 0.44, CADD 32.00
Public TGFB2 analysis runs
- TGFB2 analysis run — TGFB2 (836 variants) — completed 2026-08-18