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Links from MedGen

Items: 1 to 100 of 460

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD4
(I240R)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(D120V)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(H300L)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(A458V)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(N285fs)
Deletion
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
(G252*)
Single nucleotide variant
(nonsense +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
(Q250fs)
Duplication
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
(P522fs)
Deletion
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
Insertion
(nonsense +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
Single nucleotide variant
(splice acceptor variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely pathogenic
SMAD4
Deletion
(genic downstream transcript variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
(S196fs)
Duplication
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
(A452fs)
Deletion
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
Single nucleotide variant
(splice acceptor variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely pathogenic
SMAD4
Single nucleotide variant
(stop lost +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely pathogenic
SMAD4
Single nucleotide variant
(splice acceptor variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely pathogenic
SMAD4
(P198fs)
Deletion
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
(I141V)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(I482L)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(stop lost +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(E31Q)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(L82V)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(G299R)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Deletion
(5 prime UTR variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely benign
SMAD4
(L104V)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(E175G)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(D547fs)
Deletion
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(P186T)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(splice donor variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(T277I)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(S432T)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(P514L)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(P514S)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely benign
SMAD4
(D160V)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Single nucleotide variant
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely benign
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
Insertion
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(R87W)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
SMAD4
(Q248E)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GUncertain significance
SMAD4
(D2A)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GUncertain significance
SMAD4
(P544S)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis syndrome
+1 more
GUncertain significance
SMAD4
(V506fs)
Duplication
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely pathogenic
SMAD4
Single nucleotide variant
(splice acceptor variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely pathogenic
SMAD4
Single nucleotide variant
(intron variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(T11P)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(P198A)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
(P544L)
Single nucleotide variant
(missense variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(S234*)
Duplication
(nonsense +1 more)
Juvenile polyposis syndrome
+3 more
GPathogenic
SMAD4
(P292fs)
Deletion
(frameshift variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
SMAD4
(L172fs)
Deletion
(frameshift variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
(I518fs)
Duplication
(frameshift variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GPathogenic
SMAD4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GLikely benign
SMAD4
(S206C)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GUncertain significance
SMAD4
(L98R)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(I74V)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
(I545T)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GLikely benign
SMAD4
(Q516*)
Single nucleotide variant
(nonsense)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
SMAD4
(G231fs)
Deletion
(frameshift variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GPathogenic
SMAD4
Single nucleotide variant
(synonymous variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GLikely benign
SMAD4
Single nucleotide variant
(synonymous variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GLikely benign
SMAD4
Single nucleotide variant
(splice donor variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GLikely pathogenic
SMAD4
(P225S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
SMAD4
(A274V)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+4 more
GUncertain significance
SMAD4
(F253Y)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GUncertain significance
SMAD4
(P303H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GUncertain significance
SMAD4
(V397I)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
SMAD4
(T181S)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GUncertain significance
SMAD4
(H177R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+1 more
GUncertain significance
SMAD4
(G508fs)
Deletion
(frameshift variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
SMAD4
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
SMAD4
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
SMAD4
Single nucleotide variant
(splice donor variant)
Juvenile polyposis syndrome
+1 more
GLikely pathogenic
SMAD4
(Q311R)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GUncertain significance
SMAD4
Insertion
(nonsense)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GLikely pathogenic
SMAD4
Single nucleotide variant
(intron variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
SMAD4
(Y276F)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+6 more
GUncertain significance
SMAD4
(W101*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
SMAD4
(I525T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SMAD4
(H282Y)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GUncertain significance
SMAD4
(A212V)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GUncertain significance
SMAD4
Single nucleotide variant
(synonymous variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+4 more
GLikely benign
SMAD4
(S483G)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
SMAD4
(G247E)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
(M543I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
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