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Items: 1 to 100 of 648

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
ATP6V0E1, BNIP1
+91 more
Copy number loss
See cases
GPathogenic
ATP6V0E1, BNIP1
+81 more
Copy number loss
See cases
GPathogenic
NKX2-5
Deletion
Atrial septal defect 7
GPathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant)
Atrial septal defect 7
GBenign
NKX2-5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
NKX2-5
Duplication
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
NKX2-5
(A323G)
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
(I321V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(G320D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
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
+1 more
GLikely benign
NKX2-5
(H319R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+2 more
GUncertain significance
NKX2-5
(L318A)
Indel
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(T317M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
NKX2-5
(S316Y)
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)
Cardiovascular phenotype
GLikely benign
NKX2-5
(V315L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GConflicting classifications of pathogenicity
NKX2-5
(G314E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(G314*)
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
+1 more
GLikely benign
NKX2-5
(S313L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(S311N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
NKX2-5
(S311R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(S311G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
(Q310*)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(P309L)
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
(I308V)
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)
Cardiovascular phenotype
+1 more
GLikely benign
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
(V303F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GLikely benign
NKX2-5
(N301K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(L300F)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(L300S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
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
(D299G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrioventricular septal defect, somatic
+1 more
GPathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(G298E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+8 more
GUncertain significance
NKX2-5
(G298fs)
Duplication
(3 prime UTR variant +1 more)
not specified
+7 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(V297F)
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
(G296D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
NKX2-5
(G296C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(G296S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(F295L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(F295L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+6 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
(N291del)
Microsatellite
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
NKX2-5
(N291T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
NKX2-5
(N291Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
(N290S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
NKX2-5
(N289K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(A288V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(A288T)
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
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+3 more
GConflicting classifications of pathogenicity
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
(A286V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(T285I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NKX2-5
(T285fs)
Duplication
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Ventricular septal defect 3
+7 more
GLikely benign
NKX2-5
(A284V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Duplication
(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
(P283L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P283R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P283Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+7 more
GUncertain significance
NKX2-5
(P283A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(A281V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(A281E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+6 more
GUncertain significance
NKX2-5
(A281T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(P280L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GLikely benign
NKX2-5
(S279F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
NKX2-5
(S279A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
NKX2-5
(P278L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
(G277R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
(G277W)
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
(A276G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+7 more
GUncertain significance
NKX2-5
(A276T)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 7
GUncertain significance
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
GLikely benign
NKX2-5
(P275L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+1 more
GUncertain significance
NKX2-5
(P275S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NKX2-5
(P275T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+7 more
GLikely benign
Display optionsSort by LocationDownload
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