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Links from MedGen

Items: 1 to 100 of 469

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB2
Deletion
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(C4fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(H241R +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(D412H +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(R320fs +1 more)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(H213L +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(M284I +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(C441R +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(K101*)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(Y98*)
Duplication
(nonsense +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(H212R +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(C408* +1 more)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(stop lost +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(E320K +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S73T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S223N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Deletion
(splice donor variant)
Loeys-Dietz syndrome 4
GLikely pathogenic
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(A100D)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(V63fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(E148D +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(D357fs +1 more)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(R153fs +1 more)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(D30fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(A276V +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(S321L +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(F354L +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Microsatellite
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(C254* +1 more)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
Deletion
(intron variant)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(Y369H +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(splice acceptor variant)
Loeys-Dietz syndrome 4
GLikely pathogenic
TGFB2
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(R320H +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(T278I +1 more)
Single nucleotide variant
(missense variant)
TGFB2-related condition
+1 more
GUncertain significance
TGFB2
(K396E +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
TGFB2
(K333N +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Duplication
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S234C +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Insertion
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(C89R)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(A335P +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(A82T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(P58L)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
+1 more
GUncertain significance
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(Q183K +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(L27I)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Duplication
(intron variant)
Loeys-Dietz syndrome 4
GBenign
TGFB2
(T181A +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(E197* +1 more)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(S261N +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(T298S +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(L310M +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(T51I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(Q292H +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(D263Y +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(E373G +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(Q402* +1 more)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(S7G)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Duplication
(inframe_insertion +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(T284fs +1 more)
Deletion
(frameshift variant)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(E102D)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
(G219* +1 more)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 4
GPathogenic
TGFB2
(E38Q)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
(Y395C +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 4
GUncertain significance
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
GLikely benign
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