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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD4
(A39fs)
Indel
(frameshift variant)
not provided
GUncertain significance
SMAD4
Indel
(nonsense)
not provided
GPathogenic
SMAD4
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+6 more
GBenign
SMAD4
(R189C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
SMAD4
(N316S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
SMAD4
(Y353C)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GConflicting classifications of pathogenicity
SMAD4
Single nucleotide variant
(synonymous variant)
Juvenile polyposis syndrome
+4 more
GLikely benign
SMAD4
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+7 more
GBenign/Likely benign
SMAD4
(A406T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMAD4
(I500V)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+8 more
GPathogenic
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