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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD4
(R361C)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+5 more
GPathogenic
SMAD4
(Q388*)
Single nucleotide variant
(nonsense)
Juvenile polyposis syndrome
GPathogenic
SMAD4
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GPathogenic
SMAD4
(R496C)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+9 more
GConflicting classifications of pathogenicity
SMAD4
(I500V)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+8 more
GPathogenic
SMAD4
(I500T)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GPathogenic
SMAD4
(I500M)
Single nucleotide variant
(missense variant)
Myhre syndrome
GPathogenic
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