U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR1A
(D42N +1 more)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
BMPR1A
(G251C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SMAD4
(C123fs)
Deletion
(frameshift variant)
Juvenile polyposis syndrome
GLikely pathogenic
SMAD4
(S178*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
SMAD4
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
GUncertain significance
SMAD4
(I500V)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+9 more
GPathogenic
Format
Items per page
Sort by
Choose Destination