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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX5
(A384V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TBX5
(T283N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
+4 more
GBenign/Likely benign
TBX5
(V263M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
TBX5
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
TBX5
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
TBX5
(D111Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
TBX5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBX5
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
+4 more
GBenign/Likely benign
TBX5
(A19S)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
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