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Items: 1 to 100 of 695

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
CFAP73, DDX54
+68 more
Copy number loss
See cases
GPathogenic
LOC109280163, TBX5
Single nucleotide variant
TBX5-related disorder
GUncertain significance
TRD-GTC2-10, TRD-GTC2-9
+906 more
Copy number gain
See cases
GPathogenic
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Deletion
(3 prime UTR variant)
Holt-Oram syndrome
GLikely benign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Deletion
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GLikely benign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Indel
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
+1 more
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
TBX5
Single nucleotide variant
(3 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
(D466N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
(S465R +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
TBX5-related disorder
+2 more
GBenign/Likely benign
TBX5
(S465N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBX5
(E463A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(E513G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GLikely benign
TBX5
(V458A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(G457E +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(G507R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
TBX5
(H453Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX5
(S448Y +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GLikely benign
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
TBX5
(T446A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(T446fs +1 more)
Deletion
(frameshift variant)
Aortic valve disease 2
+1 more
GLikely pathogenic
TBX5
(R445K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(V443M +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
+2 more
GConflicting classifications of pathogenicity
TBX5
Single nucleotide variant
(synonymous variant)
Holt-Oram syndrome
+3 more
GLikely benign
TBX5
(S490F +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(P435fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
TBX5
(P434H +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GLikely benign
TBX5
(P484S +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
TBX5
(T431I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
(Q419fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
(Q427R +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(Q477* +1 more)
Single nucleotide variant
(nonsense)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
+1 more
GBenign
TBX5
(T424I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
+1 more
GLikely benign
TBX5
(Q419H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(V416M +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
+2 more
GUncertain significance
TBX5
(H463P +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
(A412S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX5
(V411M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
+1 more
GLikely benign
TBX5
(T409N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(M404I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
(M454T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(L450V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
(Q399fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(P398L +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GLikely benign
TBX5
(N394K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(G391D +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(G391S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(A390V +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
+1 more
GUncertain significance
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