RS397518413 SMAD4
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What This Variant Does
"CLNSIG=5
Associated Conditions
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
SMAD4-related disorder
Moyamoya angiopathy
Intellectual disability
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Other Variants in SMAD4