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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
(M3235L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
CAV3, OXTR
(C72W)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(T78M)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
SCN5A
(N406K)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
GPathogenic
ANK2
(D2283N +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+1 more
GUncertain significance
ANK2
(T1424I +43 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
AKAP9
(F294C)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
GUncertain significance
AKAP9
(I661L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(R1110T)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
AKAP9
(R3454Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 11
+3 more
GUncertain significance
AKAP9
(R1999W +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
AKAP9
(S3793C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNH2
(R1033W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
KCNH2
(T555M +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GConflicting classifications of pathogenicity
KCNH2
(L192P +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+1 more
GConflicting classifications of pathogenicity
KCNH2
Microsatellite
(inframe_indel +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
KCNQ1
(P73T)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+8 more
GConflicting classifications of pathogenicity
KCNQ1
(R174H +2 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+7 more
GPathogenic/Likely pathogenic
KCNQ1
Deletion
(splice donor variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNQ1
(L203P +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
GPathogenic
KCNQ1
(S225L +2 more)
Single nucleotide variant
(missense variant)
KCNQ1-Related Disorders
+9 more
GPathogenic/Likely pathogenic
KCNQ1
(A300T +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+7 more
GConflicting classifications of pathogenicity
KCNQ1
(F340del +3 more)
Microsatellite
(inframe_indel +1 more)
Long QT syndrome
+7 more
GPathogenic
KCNQ1
(K362R +2 more)
Single nucleotide variant
(missense variant)
KCNQ1-Related Disorders
+23 more
GConflicting classifications of pathogenicity
KCNQ1
(R366W +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GPathogenic/Likely pathogenic
KCNQ1, KCNQ1OT1
(Q505* +4 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
KCNQ1
(R518* +4 more)
Single nucleotide variant
(nonsense)
not specified
+8 more
GPathogenic
KCNQ1
(R539W +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+7 more
GPathogenic/Likely pathogenic
KCNQ1
(I567T +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
KCNQ1
(T587M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic
KCNQ1, KCNQ1-AS1
(G516S +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GBenign
CACNA1C
(G490R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
SNTA1
(A257G)
Single nucleotide variant
(missense variant)
SNTA1-related condition
+6 more
GConflicting classifications of pathogenicity
LOC130065680, SNTA1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 1
GUncertain significance
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