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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD4
(N13S)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
SMAD4
(R189C)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+6 more
GConflicting classifications of pathogenicity
SMAD4
(M294V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GConflicting classifications of pathogenicity
SMAD4
(N316S)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
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