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Links from MedGen

Items: 1 to 100 of 511

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPO, TMPO-AS1
(T57S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(H585L)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(A95V)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(G320D)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(E526K)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(K535E)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(C287Y)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(K688E)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(G217E)
Single nucleotide variant
(intron variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(S295P)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(R230H)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(L162Q)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(P430L)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(K192N)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(S436T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TGFBR2
(L230Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GLikely pathogenic
TGFBR2
(Q324* +8 more)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 2
GPathogenic
TMPO
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
TGFBR2
(W231* +10 more)
Single nucleotide variant
(nonsense)
Loeys-Dietz syndrome 2
GLikely pathogenic
TGFBR2
(R3W)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Duplication
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(S392R)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(V648A)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(I408M)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(S159del)
Microsatellite
(inframe_deletion)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
(P2L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(D285fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(L373fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
LOC130008520, TMPO
+1 more
(L77F)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(A601T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(P161H)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(G391S)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
LOC130008520, TMPO
+1 more
(V91A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(E505K)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(A556T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO-AS1, TMPO
(E70D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(P131S)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(T96I)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(T584A)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO-AS1, TMPO
(T57I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(W506R)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(T160del)
Deletion
(inframe_deletion)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(D108E)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(G681R)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(T154P)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(S365fs)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(M457I)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(V522fs)
Deletion
(frameshift variant +1 more)
not specified
+1 more
GUncertain significance
TMPO
(E254*)
Single nucleotide variant
(nonsense +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(G210A)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(A547S)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(R650G)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
(T57N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
(N398H)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
(G92S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMPO, TMPO-AS1
+1 more
(S79F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO
(T611I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
TMPO
(A587V)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GUncertain significance
TMPO
(T584I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMPO
(P352L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMPO
(D537G)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
TMPO
(K435N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO
(T160I)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
+1 more
GUncertain significance
TMPO
(H641Y)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO
(I165V)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
(A29T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFBR2
(Q444P +8 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GLikely pathogenic
TGFBR2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 2
GUncertain significance
TGFBR2
(C393R +8 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GLikely pathogenic
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