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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD4
(W101*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
SMAD4
(Y353C)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
SMAD4
(R361C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
SMAD4
(V437I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMAD4
(I525V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
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