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Links from Gene

Items: 1 to 100 of 709

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX5
(A160P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX5
(R132S +1 more)
Single nucleotide variant
(missense variant)
TBX5-related disorder
GUncertain significance
TBX5
(L44fs +1 more)
Duplication
(frameshift variant)
TBX5-related disorder
GPathogenic
TBX5
(P449A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(M1T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
(A19T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
TBX5
(C281G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
(G430V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(A11E)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBX5
Single nucleotide variant
(splice acceptor variant)
Holt-Oram syndrome
GPathogenic
TBX5
(L254F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX5
Duplication
Aortic valve disease 2
GUncertain significance
TBX3, TBX5
Duplication
Aortic valve disease 2
+1 more
GUncertain significance
TBX5
(P435fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
TBX5
(F105S +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(T233A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
TBX5
(V217M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(E158D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(H154D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
(E463A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(T424I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
(S356C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(D345G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TBX5
(K290E +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(H204Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(K66I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(T446A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(A138V +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(G119V +1 more)
Single nucleotide variant
(missense variant)
TBX5-related disorder
GUncertain significance
LOC109280163, TBX5
Single nucleotide variant
TBX5-related disorder
GUncertain significance
TBX5
(A143T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GLikely benign
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GBenign
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GUncertain significance
TBX5
(S322T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GLikely benign
TBX5
(G53E +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
+1 more
GUncertain significance
TBX5
(S30R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
(L110P +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(S91C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
(H114Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
(P287H +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
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
(P484S +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(Y380* +1 more)
Single nucleotide variant
(nonsense)
Aortic valve disease 2
GUncertain significance
TBX5
(E23Q +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GLikely pathogenic
TBX5
(R81K +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(L244P +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
Deletion
(inframe_deletion)
Aortic valve disease 2
GUncertain significance
TBX5
(P297S +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(H177Y +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(M343V +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
Deletion
(splice acceptor variant)
Aortic valve disease 2
GLikely pathogenic
TBX5
(L10R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GLikely benign
TBX5
(T161I +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(G288R +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(A34fs)
Duplication
(frameshift variant +1 more)
Aortic valve disease 2
GPathogenic
TBX5
(P39fs)
Deletion
(frameshift variant +1 more)
Aortic valve disease 2
GPathogenic
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
(W351C +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(P389H +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(P307fs +1 more)
Deletion
(frameshift variant)
Aortic valve disease 2
GPathogenic
TBX5
(R84L +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(N245fs +1 more)
Deletion
(frameshift variant)
Aortic valve disease 2
GPathogenic
TBX5
(Q427R +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(T149fs +1 more)
Duplication
(frameshift variant)
Aortic valve disease 2
GPathogenic
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GLikely benign
TBX5
(H127fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
+1 more
GLikely benign
TBX5
(E128K +1 more)
Single nucleotide variant
(missense variant)
TBX5-related disorder
GUncertain significance
TBX5
Single nucleotide variant
(splice acceptor variant)
TBX5-related disorder
GLikely pathogenic
TBX5
(R134H +1 more)
Single nucleotide variant
(missense variant)
TBX5-related disorder
GUncertain significance
TBX5
(H221N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(V458A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(R445K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(C360R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(P129L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TBX5
(W121L +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
(D118G +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GPathogenic
TBX5
(R31M +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
(Y241* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TBX5
(A146fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TBX5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBX5
(G119E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX5
(F182L +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GPathogenic
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