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Links from MedGen

Items: 1 to 100 of 271

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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/hereditary hemorrhagic telangiectasia syndrome
+1 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
(L98R)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
GUncertain significance
SMAD4
(A274V)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GUncertain significance
SMAD4
(P303H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GUncertain significance
SMAD4
(H177R)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GUncertain significance
SMAD4
(G508fs)
Deletion
(frameshift variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
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)
Myhre syndrome
+6 more
GUncertain significance
SMAD4
(W101*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic
SMAD4
(H282Y)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+1 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
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+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
(5 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
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
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+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
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)
Generalized juvenile polyposis/juvenile polyposis coli
+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)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GBenign
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia 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
(S517N)
Single nucleotide variant
(missense variant)
Myhre syndrome
+5 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GBenign/Likely benign
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
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
(intron variant)
Juvenile polyposis syndrome
+3 more
GConflicting classifications of pathogenicity
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+4 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(5 prime UTR variant)
Myhre syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+3 more
GConflicting classifications of pathogenicity
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+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
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)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GBenign
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+3 more
GConflicting classifications of pathogenicity
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(3 prime UTR variant)
Generalized juvenile polyposis/juvenile polyposis coli
+2 more
GUncertain significance
SMAD4
(P514L)
Indel
(missense variant)
Juvenile polyposis syndrome
+3 more
GUncertain significance
SMAD4
(P203L)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GUncertain significance
SMAD4
(A309V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
SMAD4
(A532D)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GUncertain significance
SMAD4
(H405Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SMAD4
(P153S)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+4 more
GUncertain significance
SMAD4
(V437I)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
SMAD4
(R420C)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GUncertain significance
SMAD4
(M447L)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+5 more
GUncertain significance
SMAD4
(I228V)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GUncertain significance
SMAD4
(Y353C)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GConflicting classifications of pathogenicity
SMAD4
(G230R)
Single nucleotide variant
(missense variant)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
+3 more
GUncertain significance
SMAD4
(W302R)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+2 more
GUncertain significance
SMAD4
Single nucleotide variant
(splice donor variant)
Myhre syndrome
+2 more
GPathogenic
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