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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-5
(P283Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+7 more
GUncertain significance
NKX2-5
(A276G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+7 more
GUncertain significance
NKX2-5
(R216H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(L177fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GPathogenic
NKX2-5
(C114W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
NKX2-5
(L66F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NKX2-5
(A63fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
NKX2-5
(A57P)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
+2 more
GUncertain significance
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