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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPO
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 2
+1 more
GBenign/Likely benign
TMPO
(S433T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMPO
(L513fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1T
GUncertain significance
TMPO
(P426L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
TMPO
(K416E)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1T
+4 more
GBenign
TMPO
(R690C)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
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