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Links from MedGen

Items: 1 to 100 of 220

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX5
(F105S +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(A138V +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(H127fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
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
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBX5
(F182L +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GPathogenic
TBX5
(Q174fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(Y37* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GLikely pathogenic
TBX5
(I162V +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(A390V +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
+1 more
GUncertain significance
TBX5
(P132T +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
(L102V +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(G249S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TBX5
(V416M +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
+2 more
GUncertain significance
TBX5
(V56fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(K38* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
(G185E +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
Single nucleotide variant
(splice donor variant)
Holt-Oram syndrome
GPathogenic
TBX5
(R113* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TBX5
Single nucleotide variant
(splice acceptor variant)
Aortic valve disease 2
+1 more
GPathogenic/Likely pathogenic
TBX5
(W14* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TBX5
Single nucleotide variant
(5 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(5 prime UTR variant)
Holt-Oram syndrome
GBenign
TBX5
Single nucleotide variant
(5 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(5 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(5 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(P308S +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GLikely benign
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TBX5
(M329L +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
+1 more
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
(5 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(E6K)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
TBX5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TBX5
(M404I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
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, TBX5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Holt-Oram syndrome
GUncertain significance
TBX5, TBX5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(5 prime UTR variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
+2 more
GConflicting classifications of pathogenicity
TBX5
Single nucleotide variant
(synonymous variant)
Holt-Oram syndrome
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(V257M +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
+2 more
GConflicting classifications of pathogenicity
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
(S36fs)
Duplication
(frameshift variant +1 more)
Left ventricular noncompaction cardiomyopathy
+1 more
GPathogenic
TBX5
(Q252fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(Q130fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
+1 more
GLikely benign
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
+1 more
GBenign/Likely benign
TBX5
Single nucleotide variant
(synonymous variant)
Holt-Oram syndrome
+3 more
GLikely benign
TBX5
(S251C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TBX5
Deletion
Holt-Oram syndrome
GPathogenic
TBX5
(Y87* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
(Q315* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
(L225* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
(P359fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(D25fs)
Insertion
(frameshift variant +1 more)
Holt-Oram syndrome
GPathogenic
TBX5
(N174D +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(P85L +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(Y311* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
(E278fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(H112fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
Single nucleotide variant
(splice acceptor variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
Single nucleotide variant
(intron variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
Single nucleotide variant
Holt-Oram syndrome
GPathogenic
TBX5
(N259fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
Deletion
Holt-Oram syndrome
GPathogenic
TBX5
(S40*)
Single nucleotide variant
(nonsense +1 more)
Holt-Oram syndrome
GPathogenic
TBX5
(N191fs +1 more)
Duplication
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(K99* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
(G235* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
(V153fs +1 more)
Duplication
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(K226R +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
Single nucleotide variant
(splice acceptor variant)
Holt-Oram syndrome
GLikely pathogenic
TBX5
(A143fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
Deletion
Holt-Oram syndrome
GPathogenic
TBX5
Indel
Holt-Oram syndrome
GPathogenic
TBX5
(D116fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
Duplication
Holt-Oram syndrome
GPathogenic
TBX5
(F232V +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GUncertain significance
TBX5
(I177fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(S282F +1 more)
Single nucleotide variant
(missense variant)
Holt-Oram syndrome
GPathogenic
TBX5
Deletion
Holt-Oram syndrome
GPathogenic
TBX5
(W401* +1 more)
Single nucleotide variant
(nonsense)
Holt-Oram syndrome
GPathogenic
TBX5
Duplication
Holt-Oram syndrome
GPathogenic
TBX5
(I162fs +1 more)
Microsatellite
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(E193fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
(Q399fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
TBX5
Duplication
Holt-Oram syndrome
GPathogenic
TBX5
(P117fs +1 more)
Deletion
(frameshift variant)
Holt-Oram syndrome
GPathogenic
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