NM_003238.6(TGFB2):c.346+1G>APathogenic
not provided|Loeys-Dietz syndrome 4
β
β
ββ2026
NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4
β
β
ββ2026β Residue 341
NM_003238.6(TGFB2):c.814A>T (p.Lys272Ter)Pathogenic
not provided|Loeys-Dietz syndrome 4
β
β
ββ2026β Residue 272
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2026β Residue 193
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)Pathogenic
Loeys-Dietz syndrome 4|not provided|TGFB2-related disorder|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025β Residue 320
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025β Residue 302
NM_003238.6(TGFB2):c.932+1G>APathogenic
not provided|Loeys-Dietz syndrome 4
β
β
ββ2025
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)Pathogenic
Loeys-Dietz syndrome|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection|not provided
β
β
ββ2025β Residue 131
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser)Pathogenic
not provided|Loeys-Dietz syndrome 4
β
β
ββ2025β Residue 302
NM_003238.6(TGFB2):c.128_131dup (p.Leu45fs)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4
β
β
ββ2025β Residue 45
NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter)Pathogenic
Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025β Residue 99
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome
β
β
ββ2025β Residue 299
NM_003238.6(TGFB2):c.346+1G>TLikely pathogenic
Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)Pathogenic
Loeys-Dietz syndrome 4|not provided|Aortic aneurysm, familial thoracic, TGFB2 related|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome
β
β
ββ2025β Residue 302
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)Pathogenic
not provided|Loeys-Dietz syndrome 4|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection|TGFB2-related disorder
β
β
ββ2025β Residue 299
NM_003238.6(TGFB2):c.194dup (p.Glu66fs)Pathogenic
Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
β
β
ββ2025β Residue 66
NM_003238.6(TGFB2):c.356del (p.Pro119fs)Pathogenic
not provided
β
β
ββ2025β Residue 119
NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter)Pathogenic
Loeys-Dietz syndrome 4|Loeys-Dietz syndrome
β
β
ββ2024β Residue 49
NM_003238.6(TGFB2):c.821dup (p.Asn274fs)Pathogenic
not provided|not specified|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4
β
β
ββ2024β Residue 274
NM_003238.6(TGFB2):c.918_923dup (p.Tyr308Ter)Pathogenic
Loeys-Dietz syndrome 4|not provided
β
β
ββ2024β Residue 308