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Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-5
(N246S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ventricular septal defect 3
+1 more
GUncertain significance
NKX2-5
(K183Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ventricular septal defect 3
GUncertain significance
NKX2-5
(A255T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+6 more
GUncertain significance
NKX2-5
(K124E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+5 more
GUncertain significance
NKX2-5
(A165V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+7 more
GUncertain significance
NKX2-5
(Q170H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+5 more
GUncertain significance
NKX2-5
(G298E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypothyroidism, congenital, nongoitrous, 5
+6 more
GUncertain significance
NKX2-5
Microsatellite
(3 prime UTR variant +1 more)
Atrial septal defect 7
+5 more
GUncertain significance
NKX2-5
(A83G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
NKX2-5
(A57S)
Single nucleotide variant
(missense variant)
Ventricular septal defect 3
+6 more
GUncertain significance
NKX2-5
(V174G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+5 more
GUncertain significance
NKX2-5
(E60Q)
Single nucleotide variant
(missense variant)
Ventricular septal defect 3
+7 more
GUncertain significance
NKX2-5
(R217K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ventricular septal defect 3
+5 more
GUncertain significance
NKX2-5
(N129K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Tetralogy of Fallot
+5 more
GUncertain significance
NKX2-5
(P212R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ventricular septal defect 3
+6 more
GUncertain significance
NKX2-5
(F295L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ventricular septal defect 3
+6 more
GUncertain significance
NKX2-5
(E32D)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+5 more
GUncertain significance
NKX2-5
(A63V)
Single nucleotide variant
(missense variant)
NKX2-5-related condition
+8 more
GConflicting classifications of pathogenicity
NKX2-5
(A281E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+7 more
GLikely benign
NKX2-5
(P275T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+7 more
GLikely benign
NKX2-5
(G298fs)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+7 more
GUncertain significance
NKX2-5
(N251K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
NKX2-5
(V150I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+7 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+7 more
GLikely benign
NKX2-5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
NKX2-5
(Q22P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
NKX2-5
(N291del)
Microsatellite
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
NKX2-5
(P275L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
(A276G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+7 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+7 more
GLikely benign
NKX2-5
(A119E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+8 more
GUncertain significance
NKX2-5
(P257T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypothyroidism, congenital, nongoitrous, 5
+7 more
GUncertain significance
NKX2-5
(R197P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+7 more
GUncertain significance
NKX2-5
(R143Q)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+6 more
GBenign/Likely benign
NKX2-5
(A262fs)
Deletion
(3 prime UTR variant +1 more)
Malformation of the heart and great vessels
+7 more
GPathogenic/Likely pathogenic
NKX2-5
(P257A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ventricular septal defect 3
GPathogenic
NKX2-5
(P59A)
Single nucleotide variant
(missense variant)
Ventricular septal defect 3
GPathogenic
NKX2-5
(P283Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+7 more
GUncertain significance
NKX2-5
(A219V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
NKX2-5
(R216C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+6 more
GUncertain significance
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