NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)Pathogenic
Rienhoff syndrome|not provided
★★☆☆2026→ Residue 300
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Rienhoff syndrome|Developmental disorder|Rienhoff syndrome;Arrhythmogenic right ventricular dysplasia 1
★★☆☆2025→ Residue 345
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter)Pathogenic
Rienhoff syndrome|not provided
★★☆☆2025→ Residue 330
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Rienhoff syndrome
★★☆☆2025→ Residue 148
NM_003239.5(TGFB3):c.878del (p.Gln293fs)Pathogenic
Rienhoff syndrome|not provided
★★☆☆2025→ Residue 293
NM_003239.5(TGFB3):c.926+1G>ALikely pathogenic
Rienhoff syndrome|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs)Pathogenic
Rienhoff syndrome|Loeys-Dietz syndrome
★★☆☆2025→ Residue 295
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|not provided|Rienhoff syndrome|Loeys-Dietz syndrome
★★☆☆2025→ Residue 325
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)Pathogenic
Rienhoff syndrome|not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 300
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Rienhoff syndrome;Arrhythmogenic right ventricular dysplasia 1|Rienhoff syndrome
★★☆☆2025→ Residue 368
NM_003239.5(TGFB3):c.646+1G>CLikely pathogenic
Rienhoff syndrome|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025
NM_003239.5(TGFB3):c.884dup (p.Gln296fs)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|not provided|Rienhoff syndrome
★★☆☆2024→ Residue 296
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)Likely pathogenic
not provided|Rienhoff syndrome
★★☆☆2024→ Residue 399
NM_003239.5(TGFB3):c.927-1G>CLikely pathogenic
Rienhoff syndrome|Rienhoff syndrome;Arrhythmogenic right ventricular dysplasia 1
★★☆☆2024
NM_003239.5(TGFB3):c.884del (p.Gly295fs)Likely pathogenic
Rienhoff syndrome|Loeys-Dietz syndrome
★★☆☆2023→ Residue 295
NM_003239.5(TGFB3):c.517-2A>GLikely pathogenic
Rienhoff syndrome|Arrhythmogenic right ventricular dysplasia 1
★★☆☆2023
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Rienhoff syndrome
★★☆☆2023→ Residue 298
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Rienhoff syndrome
★★☆☆2022→ Residue 37
NM_003239.5(TGFB3):c.621del (p.Val208fs)Pathogenic
not provided|Rienhoff syndrome
★★☆☆2021→ Residue 208
NM_003239.5(TGFB3):c.353-2_353delLikely pathogenic
Rienhoff syndrome
★☆☆☆2025