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Links from MedGen

Items: 1 to 100 of 279

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKAP9
(M1843K)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
GUncertain significance
AKAP9
(E138del)
Microsatellite
(inframe_indel +1 more)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(R1845G +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
GUncertain significance
AKAP9
(E415K)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(I1035V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
GUncertain significance
AKAP9
(T105K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
GUncertain significance
AKAP9
(D222G)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+1 more
GConflicting classifications of pathogenicity
AKAP9
(D2050Y +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
GUncertain significance
AKAP9
(T1392I)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(L1875W +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
GUncertain significance
AKAP9
(R1620*)
Single nucleotide variant
(nonsense)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(Q2298* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
AKAP9
(R624fs)
Microsatellite
(frameshift variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(splice donor variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+1 more
GConflicting classifications of pathogenicity
AKAP9
(I1654V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(S1518G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(A1953V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(Q202E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(H3315Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(S3296T +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(P3117T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(T345I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(E3346G +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GUncertain significance
AKAP9
(S1450T)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(M1288I)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(I1188T)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(D1395A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(T3399N +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(R3756K +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(L1517P)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(M790V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(I3548T +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(A620T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
AKAP9
(S3580T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(E1487K +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(R1880C +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(L1150F)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+3 more
GConflicting classifications of pathogenicity
AKAP9
(N1229D)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+2 more
GConflicting classifications of pathogenicity
AKAP9
(S1357I +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(I2447V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(M280I +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(T1312P)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(I1428V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(I987V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(E1248D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(E788A)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GUncertain significance
AKAP9
(S1918G +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(E2696D +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9, LOC129998789
(Q265E)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(T1357I)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(R2047C +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(L1996S +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
AKAP9
Deletion
(intron variant)
Long QT syndrome 11
+1 more
GBenign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome 11
+1 more
GBenign
AKAP9
(T1131K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
AKAP9
(K109E +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
AKAP9
Duplication
(intron variant)
Long QT syndrome
+2 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
+3 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+2 more
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+4 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+3 more
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome 11
+1 more
GLikely benign
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
+1 more
GLikely benign
AKAP9
(R2656del +2 more)
Microsatellite
(inframe_deletion)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(H1127Q)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
AKAP9
(K1821N +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(L1276P +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GUncertain significance
AKAP9
(Y2046H +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GUncertain significance
AKAP9
(T1547fs)
Deletion
(frameshift variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(M2364V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GConflicting classifications of pathogenicity
AKAP9
(S2877L +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GUncertain significance
AKAP9
(P3332L +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(E1265K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(Q1495E +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
GUncertain significance
AKAP9
(V1444A)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(A552V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(Q71E)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(S1533N)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(G1959A +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GConflicting classifications of pathogenicity
AKAP9
(R1143Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GConflicting classifications of pathogenicity
AKAP9
(R1731K +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+1 more
GUncertain significance
AKAP9
(Q248R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(V2218I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(I2316V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(E1443V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(N1100S)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GConflicting classifications of pathogenicity
AKAP9
(H409P)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+2 more
GUncertain significance
AKAP9
(E1223K +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
(R3784Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
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