NM_004612.4(TGFBR1):c.1126A>G (p.Lys376Glu)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2026→ Residue 376
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)Pathogenic
Loeys-Dietz syndrome 1|not provided|Familial thoracic aortic aneurysm and aortic dissection;Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|TGFBR1-related disorder
★★☆☆2026→ Residue 487
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)Pathogenic
not provided|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1|Familial aortopathy|Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma
★★☆☆2025→ Residue 312
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)Pathogenic
Loeys-Dietz syndrome 1|not provided|Familial thoracic aortic aneurysm and aortic dissection;Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Multiple self-healing squamous epithelioma;Loeys-Dietz syndrome 1|Loeys-Dietz syndrome
★★☆☆2025→ Residue 487
NM_004612.4(TGFBR1):c.974-1G>APathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|not provided
★★☆☆2025→ Residue 227
NM_004612.4(TGFBR1):c.673C>G (p.Arg225Gly)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1
★★☆☆2025→ Residue 225
NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 80
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)Pathogenic
not provided|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 228
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|not provided
★★☆☆2025→ Residue 315
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)Pathogenic
Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
★★☆☆2024→ Residue 253
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)Pathogenic
Loeys-Dietz syndrome 1|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|not provided|Cardiovascular phenotype|Marfan syndrome;Loeys-Dietz syndrome 1|Multiple self-healing squamous epithelioma;Loeys-Dietz syndrome 1
★★☆☆2024→ Residue 241
NM_004612.4(TGFBR1):c.973+1G>ALikely pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome
★★☆☆2024
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2024→ Residue 486
NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma
★★☆☆2024→ Residue 265
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)Pathogenic
Loeys-Dietz syndrome 1
★★☆☆2023→ Residue 214
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2023→ Residue 355
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1
★★☆☆2023→ Residue 315
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)Likely pathogenic
Loeys-Dietz syndrome 1|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2022→ Residue 400
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Familial aortopathy
★★☆☆2021→ Residue 234