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Items: 1 to 100 of 683

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
ABTB3, ACACB
+712 more
Copy number gain
See cases
GPathogenic
ACTR6, ANKS1B
+91 more
Copy number gain
See cases
GLikely pathogenic
TMPO-AS1, TMPO
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
TMPO, TMPO-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated Cardiomyopathy, Dominant
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GBenign/Likely benign
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TMPO, TMPO-AS1
(P2L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign/Likely benign
TMPO, TMPO-AS1
(D7H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TMPO-AS1, TMPO
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
GLikely benign
TMPO, TMPO-AS1
(S9L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO, TMPO-AS1
(S18G)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
(S18R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
(N24H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TMPO, TMPO-AS1
(N24K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO, TMPO-AS1
(T26R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
(T26M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
(P28fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GBenign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO, TMPO-AS1
(A29S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
(A29T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GBenign/Likely benign
TMPO, TMPO-AS1
(G30R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GBenign/Likely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
(Q39*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TMPO, TMPO-AS1
(Q39R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMPO, TMPO-AS1
(Q39H)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
TMPO-AS1, TMPO
(Q43R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
TMPO, TMPO-AS1
(L45F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
(T46R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
(P51L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
TMPO, TMPO-AS1
(P52S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
TMPO, TMPO-AS1
(P54S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TMPO, TMPO-AS1
(A55V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GConflicting classifications of pathogenicity
TMPO, TMPO-AS1
(T57S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
(T57I)
Single nucleotide variant
(non-coding transcript 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, TMPO-AS1
(N58K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
(S59I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TMPO, TMPO-AS1
(S59T)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
(P62L)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
TMPO, TMPO-AS1
(P63S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
TMPO-AS1, TMPO
(D64N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
TMPO, TMPO-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
TMPO, TMPO-AS1
(E70D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GLikely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
(T74I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
(L77F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
(G78R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
(S79F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GUncertain significance
LOC130008520, TMPO
+1 more
(G80R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GLikely benign
LOC130008520, TMPO
+1 more
(A81P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC130008520, TMPO
+1 more
(A83V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
(A84V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GLikely benign
LOC130008520, TMPO
+1 more
(G85A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130008520, TMPO
+1 more
(R86G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
GUncertain significance
LOC130008520, TMPO
+1 more
(R86Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC130008520, TMPO
+1 more
(R88Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
GLikely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Loeys-Dietz syndrome 2
+1 more
GLikely benign
LOC130008520, TMPO
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
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
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