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Links from MedGen

Items: 1 to 100 of 425

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-5
(L48P)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(P209fs)
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(A288T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
NKX2-5
Single nucleotide variant
(synonymous variant)
Atrial septal defect 7
GLikely benign
NKX2-5
(A238V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(synonymous variant)
Atrial septal defect 7
GLikely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(P79Q)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(R134Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(Q22E)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
(R217G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(S234W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
(H319Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(A108T)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(D169G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(I308T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(A71P)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P283L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(R216fs)
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
Single nucleotide variant
(synonymous variant)
Atrial septal defect 7
GLikely benign
NKX2-5
(T8R)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(L153V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely pathogenic
NKX2-5
Single nucleotide variant
(synonymous variant)
Atrial septal defect 7
GLikely benign
NKX2-5
(V220M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(Y97*)
Single nucleotide variant
(nonsense)
Atrial septal defect 7
+1 more
GPathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
Single nucleotide variant
(synonymous variant)
Atrial septal defect 7
GLikely benign
NKX2-5
(R134G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(D199E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(Y162N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(Q187E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(D101G)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
Microsatellite
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(I184L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P210fs)
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(Y237*)
Duplication
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(Y250fs)
Duplication
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(D105fs)
Deletion
(frameshift variant)
Atrial septal defect 7
GPathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(S4G)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(S311R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(N291Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(R195P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(S316Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(V182fs)
Duplication
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(Q159E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P208S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(Y93*)
Single nucleotide variant
(nonsense)
Atrial septal defect 7
GPathogenic
NKX2-5
Single nucleotide variant
(synonymous variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(Q159H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(A127G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
NKX2-5
(G249fs)
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely pathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GLikely benign
ERGIC1, NEURL1B
+8 more
Deletion
Atrial septal defect 7
GPathogenic
NKX2-5
Deletion
Atrial septal defect 7
GPathogenic
NKX2-5
Deletion
Atrial septal defect 7
GPathogenic
NKX2-5
(A165G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P214L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(R36H)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(A57P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NKX2-5
(Q159H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(V205M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(F92V)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(R139K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
(A115P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(P5R)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(E109K)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
(G314E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(L245F)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(R95G)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(Y191C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
(A281V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(G244S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(C114G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(K140fs)
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(D233fs)
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GPathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(I184N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(L171Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P247A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(A281T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(synonymous variant)
Atrial septal defect 7
GLikely benign
NKX2-5
(A61V)
Single nucleotide variant
(missense variant)
Atrial septal defect 7
GUncertain significance
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