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Links from MedGen

Items: 1 to 100 of 407

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB3
(D289G)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(L154F)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(D109Y)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(L219S)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(N235K)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(P385L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(Q166fs)
Deletion
(frameshift variant)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(V136M)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(Q166*)
Single nucleotide variant
(nonsense)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(A197V)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(Q183*)
Single nucleotide variant
(nonsense)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(N158D)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(stop lost)
Rienhoff syndrome
GUncertain significance
TGFB3
(L239P)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(P336S)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(R214K)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(splice donor variant)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(L401P)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(E312K)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(E216G)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(S412R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(G329R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Deletion
(3 prime UTR variant +1 more)
Rienhoff syndrome
GLikely benign
TGFB3
(V361L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(G295fs)
Deletion
(frameshift variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
(L15M)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
(G45R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
(V333I)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
+1 more
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
(N255S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFB3
(T395N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TGFB3
Duplication
Rienhoff syndrome
GUncertain significance
TGFB3
(R175W)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(E198K)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(F17C)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(R215T)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(R143*)
Single nucleotide variant
(nonsense)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Deletion
(nonsense)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(I35V)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(Q293fs)
Deletion
(frameshift variant)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(splice donor variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
(I279L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(splice acceptor variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(N305fs)
Duplication
(frameshift variant)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(S55T)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(V406del)
Microsatellite
(inframe_deletion)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Rienhoff syndrome
GLikely benign
TGFB3
(F32fs)
Insertion
(frameshift variant)
Rienhoff syndrome
GPathogenic
TGFB3
(N241fs)
Deletion
(frameshift variant)
Rienhoff syndrome
GPathogenic
TGFB3
(P57fs)
Deletion
(frameshift variant)
Rienhoff syndrome
GPathogenic
TGFB3
(P57fs)
Deletion
(frameshift variant)
Rienhoff syndrome
GPathogenic
TGFB3
Single nucleotide variant
(splice donor variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(M62K)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
Single nucleotide variant
(synonymous variant)
Rienhoff syndrome
GLikely benign
TGFB3
(C123F)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(V122L)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Deletion
(intron variant)
Rienhoff syndrome
GLikely benign
TGFB3
(V208A)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
+1 more
GUncertain significance
TGFB3
(T60R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(S98W)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
Single nucleotide variant
(splice acceptor variant)
Rienhoff syndrome
GLikely pathogenic
TGFB3
(G90S)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
TGFB3
(L14M)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance
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