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Items: 1 to 100 of 2787

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998788, LOC129998789
+227 more
Copy number loss
See cases
GPathogenic
AKAP9, LOC129998788
+1 more
Copy number gain
See cases
GUncertain significance
AKAP9
Duplication
not provided
GBenign
AKAP9
Single nucleotide variant
not provided
GBenign
AKAP9
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AKAP9
Microsatellite
(5 prime UTR variant)
Congenital long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+1 more
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AKAP9
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
LOC129998788, LOC129998789
+19 more
Duplication
Long QT syndrome
GUncertain significance
AKAP9, LOC129998788
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
AKAP9, LOC129998788
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
AKAP9, LOC129998788
(E4Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
AKAP9, LOC129998788
(E5D)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9, LOC129998788
(R6K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9, LOC129998788
(Q7P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9, LOC129998788
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
AKAP9, LOC129998788
(K9Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9, LOC129998788
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AKAP9, LOC129998788
(L10P)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9, LOC129998788
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
AKAP9, LOC129998788
(E11G)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9, LOC129998788
(A12T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
AKAP9, LOC129998788
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
AKAP9, LOC129998788
(G13S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LOC129998788, AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
AKAP9, LOC129998788
(K14T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
AKAP9, LOC129998788
(A15V)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9, LOC129998788
Microsatellite
(intron variant)
Long QT syndrome
GLikely benign
AKAP9, LOC129998788
Single nucleotide variant
(intron variant)
not specified
+3 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
AKAP9
Single nucleotide variant
(intron variant)
not provided
GBenign
AKAP9
Copy number gain
See cases
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
not provided
GBenign
AKAP9
Single nucleotide variant
(intron variant)
not provided
GBenign
AKAP9
Single nucleotide variant
(intron variant)
not provided
GBenign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
Deletion
(genic upstream transcript variant)
not provided
+1 more
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
AKAP9
(R21*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GUncertain significance
AKAP9
(R21Q)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(R23G)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
AKAP9
(A25T)
Single nucleotide variant
(missense variant)
Ventricular tachycardia
GUncertain significance
AKAP9
(Q26P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
AKAP9
(S27W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(S27L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GBenign/Likely benign
AKAP9
(D28N)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(S31R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(R40fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(K37E)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(R40K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
AKAP9
(T42M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
AKAP9
(S43L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(S45N)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(K46R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(H47Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
AKAP9
(D48G)
Indel
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
AKAP9
(D48G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(V49E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(H52fs)
Microsatellite
(frameshift variant)
Long QT syndrome
GUncertain significance
AKAP9
(H53R)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
AKAP9
(N56D)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(D58N)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
AKAP9
(S60L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
AKAP9
(C62S)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(C62Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AKAP9
(M65V)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
AKAP9
(S70Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(Q71E)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(R72T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(V73L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
AKAP9
(P79S)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(T82R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(T86S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+2 more
GLikely benign
AKAP9
(H88Q)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(G90R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(S94I)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
AKAP9
(H95R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
AKAP9
(E96K)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
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