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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKAP9
(S27L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
AKAP9
(H47Y)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+9 more
GBenign/Likely benign
AKAP9
(E170D)
Single nucleotide variant
(missense variant)
Long QT syndrome
+7 more
GConflicting classifications of pathogenicity
AKAP9
(A458P)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+5 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
AKAP9-related disorder
+4 more
GBenign/Likely benign
AKAP9
(E1265K)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GUncertain significance
AKAP9
(I1749T)
Single nucleotide variant
(missense variant)
unspecified heart condition
+5 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+3 more
GLikely benign
AKAP9
Single nucleotide variant
(intron variant)
AKAP9-related disorder
+6 more
GConflicting classifications of pathogenicity
AKAP9
(E2013K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+6 more
GConflicting classifications of pathogenicity
AKAP9
(E2059G +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+5 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
AKAP9
(S2186P +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
AKAP9
(K2762N +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
AKAP9
(S3373Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
AKAP9
(Q3418H +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+4 more
GBenign/Likely benign
AKAP9
(D3555V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+5 more
GConflicting classifications of pathogenicity
AKAP9
(M3614V +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
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