RS281875322 SMAD4
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What This Variant Does
"CLNSIG=5
Associated Conditions
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Carcinoma of pancreas
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Intellectual disability
Neurodevelopmental delay
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
SMAD4-related disorder
Familial renal glucosuria
Familial aortopathy
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Carcinoma of pancreas
Other Variants in SMAD4