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Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPO, TMPO-AS1
(N24H)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
+2 more
GUncertain significance
TMPO, TMPO-AS1
(T26M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+2 more
GBenign/Likely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+2 more
GBenign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+2 more
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
TMPO
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+3 more
GLikely benign
TMPO
(T229I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
TMPO
(L238R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
TMPO
(A240T)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
TMPO
(R274K)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
TMPO
(S293A)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO
(M303I)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
TMPO
(A309P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
TMPO
(T317S)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
+2 more
GBenign
TMPO
(T396I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMPO
(I408V)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
TMPO
(K416E)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1T
+3 more
GBenign
TMPO
(V437L)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+3 more
GBenign/Likely benign
TMPO
(A477T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
+2 more
GConflicting classifications of pathogenicity
TMPO
(K478N)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
TMPO
(S491A)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
+2 more
GBenign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
TMPO
(K500E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TMPO
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 2
+2 more
GBenign
TMPO
(A577V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TMPO
(Q599E)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
+2 more
GBenign
TMPO
(Q602R)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GLikely benign
TMPO
(S626L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMPO
(R650H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TMPO
(L653F)
Single nucleotide variant
(intron variant +1 more)
not specified
+4 more
GBenign/Likely benign
TMPO
(G681del)
Microsatellite
(inframe_deletion +1 more)
Loeys-Dietz syndrome 2
+1 more
GUncertain significance
TMPO
(R690C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1T
+5 more
GConflicting classifications of pathogenicity
TMPO
(R205K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO
Single nucleotide variant
(intron variant)
not specified
GLikely benign
TMPO
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
TMPO
(R269H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TMPO
(A287P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
TMPO
Deletion
(intron variant)
not specified
GUncertain significance
TMPO
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TMPO
Duplication
(intron variant)
not provided
+1 more
GBenign
TMPO
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TMPO
(P392S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
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