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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR1A
(R254C)
Single nucleotide variant
(missense variant)
Polyposis syndrome, hereditary mixed, 2
+6 more
GConflicting classifications of pathogenicity
BMPR1A
(R478H)
Single nucleotide variant
(missense variant)
Generalized juvenile polyposis/juvenile polyposis coli
+5 more
GConflicting classifications of pathogenicity
SMAD4
(G508D)
Single nucleotide variant
(missense variant)
Generalized juvenile polyposis/juvenile polyposis coli
GLikely pathogenic
SMAD4
(I525V)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
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