NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome;Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2026→ Residue 195
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs)Pathogenic
not provided|Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome;Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
★★☆☆2025→ Residue 517
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)Pathogenic
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|not provided|Myhre syndrome;Generalized juvenile polyposis/juvenile polyposis coli;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas|Carcinoma of colon|Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome;Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas;Juvenile polyposis syndrome|SMAD4-related disorder
★★☆☆2025→ Residue 415
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
★★☆☆2025→ Residue 461
NM_005359.6(SMAD4):c.1392del (p.Val465fs)Pathogenic
Generalized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome;Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis syndrome
★★☆☆2025→ Residue 465
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs)Pathogenic
Juvenile polyposis syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|not provided
★★☆☆2025→ Residue 144
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)Pathogenic
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|not provided|Neoplasm
★★☆☆2025→ Residue 178
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)Pathogenic
not provided|Juvenile polyposis syndrome|Generalized juvenile polyposis/juvenile polyposis coli;Carcinoma of pancreas;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|Neoplasm|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Colorectal cancer
★★☆☆2025→ Residue 361
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|Colorectal cancer
★★☆☆2025→ Residue 343
NM_005359.6(SMAD4):c.803G>A (p.Trp268Ter)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome|Hereditary cancer-predisposing syndrome;Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 268
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)Pathogenic
Myhre syndrome|not provided|Generalized juvenile polyposis/juvenile polyposis coli|Generalized juvenile polyposis/juvenile polyposis coli;Carcinoma of pancreas;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome|Intellectual disability|Generalized juvenile polyposis/juvenile polyposis coli;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome|Juvenile polyposis syndrome|Neurodevelopmental delay|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|SMAD4-related disorder|Familial aortopathy|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Familial renal glucosuria
★★☆☆2025→ Residue 500
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)Pathogenic
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|not provided|Gallbladder cancer|Juvenile polyposis syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|Neoplasm
★★☆☆2025→ Residue 445
NM_005359.6(SMAD4):c.1278del (p.His427fs)Pathogenic
Juvenile polyposis syndrome|not provided
★★☆☆2025→ Residue 427
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)Pathogenic
not provided|Juvenile polyposis syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 499
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs)Pathogenic
not provided|Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome;Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
★★☆☆2025→ Residue 378
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)Pathogenic
not provided|Juvenile polyposis syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|Hereditary cancer-predisposing syndrome|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
★★☆☆2025→ Residue 135
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys)Likely pathogenic
not provided|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Juvenile polyposis syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 353
NM_005359.6(SMAD4):c.692dup (p.Ser232fs)Pathogenic
Juvenile polyposis of stomach|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|not provided|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 232
NM_005359.6(SMAD4):c.1447+2T>CPathogenic
Juvenile polyposis syndrome|not provided|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Squamous cell lung carcinoma
★★☆☆2025
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter)Pathogenic
Juvenile polyposis syndrome|Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome|not provided
★★☆☆2025→ Residue 302