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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-5
(D299G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrioventricular septal defect, somatic
+1 more
GPathogenic
NKX2-5
(N291del)
Microsatellite
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
NKX2-5
(P283Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+7 more
GUncertain significance
NKX2-5
(Y256*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(A219V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+6 more
GUncertain significance
NKX2-5
(R216C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+6 more
GUncertain significance
NKX2-5
(Q198*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(R190C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(T178M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(Q170*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(A127E)
Single nucleotide variant
(3 prime UTR variant +1 more)
NKX2-5-related condition
+1 more
GUncertain significance
NKX2-5
(A119S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GBenign/Likely benign
NKX2-5
(A88fs)
Deletion
(frameshift variant)
Atrial septal defect 7
GPathogenic
NKX2-5
(P77fs)
Microsatellite
(frameshift variant)
Atrial septal defect 7
GPathogenic
NKX2-5
(E72fs)
Deletion
(frameshift variant)
Atrial septal defect 7
GPathogenic
NKX2-5
(R25C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
NKX2-5
(E21Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NKX2-5
(K15I)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GPathogenic
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