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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD4
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
SMAD4
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+7 more
GBenign/Likely benign
SMAD4
(I500V)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+9 more
GPathogenic
SMAD4
(I525V)
Single nucleotide variant
(missense variant)
Myhre syndrome
+7 more
GConflicting classifications of pathogenicity
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+6 more
GBenign/Likely benign
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