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Links from Gene

Items: 1 to 100 of 623

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-5
Deletion
Atrial septal defect 7
GPathogenic
NKX2-5
Duplication
Atrial septal defect 7
GUncertain significance
NKX2-5
Duplication
Atrial septal defect 7
GUncertain significance
ATP6V0E1, BNIP1
+8 more
Deletion
Atrial septal defect 7
GPathogenic
NKX2-5
(R155W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(S279F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
(P236L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
(V182I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(R168C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(M1K)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(C82Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(A80S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
NKX2-5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
NKX2-5
(S26R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(L149F)
Single nucleotide variant
(3 prime UTR variant +2 more)
NKX2-5-related disorder
GUncertain significance
NKX2-5
(A35T)
Single nucleotide variant
(missense variant)
NKX2-5-related disorder
GUncertain significance
NKX2-5
Duplication
(intron variant)
NKX2-5-related disorder
GLikely benign
NKX2-5
(I184F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
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
(A165del)
Deletion
(3 prime UTR variant +1 more)
Conotruncal heart malformations
GUncertain significance
ARL10, ATP6V0E1
+37 more
Copy number loss
not provided
GPathogenic
NKX2-5
(D169Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NKX2-5
Duplication
(intron variant)
not provided
GBenign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NKX2-5
(P67A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(A127G)
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)
Cardiovascular phenotype
GLikely benign
NKX2-5
Duplication
(inframe_insertion)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(S98T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(Q160H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(L33F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(G249fs)
Deletion
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely pathogenic
NKX2-5
(F145L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(F157V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Tetralogy of Fallot
GLikely pathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
(A288V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(V222L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
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