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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCND3
(G273S)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
TTN
Microsatellite
(inframe_insertion +1 more)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
GPD1L
(I124V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
GPD1L
(E174K)
Single nucleotide variant
(missense variant)
Brugada syndrome
+4 more
GConflicting classifications of pathogenicity
GPD1L
(R231H)
Single nucleotide variant
(missense variant)
Brugada syndrome
+2 more
GUncertain significance
SCN5A
(V1950L +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+13 more
GBenign/Likely benign
SCN5A
(E1784K +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+7 more
GPathogenic/Likely pathogenic
SCN5A
(G1660R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(K1492del +4 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GPathogenic/Likely pathogenic
SCN5A
(D1422N +2 more)
Single nucleotide variant
(missense variant +1 more)
Sick sinus syndrome
+7 more
GUncertain significance
SCN5A
(V1377M +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R1305H +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+11 more
GConflicting classifications of pathogenicity
SCN5A
(R1193Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+13 more
GBenign/Likely benign
LOC110121269, SCN5A
(Q1117* +1 more)
Single nucleotide variant
(nonsense +1 more)
Brugada syndrome
+1 more
GPathogenic/Likely pathogenic
SCN5A
(V924I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
SCN5A
(Q692K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+11 more
GConflicting classifications of pathogenicity
SCN5A
(R533H)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+18 more
GConflicting classifications of pathogenicity
SCN5A
(S262R)
Single nucleotide variant
(missense variant)
Brugada syndrome
GLikely pathogenic
SCN5A
(T220I)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
SCN5A
(T187A)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GConflicting classifications of pathogenicity
SCN5A
(A110T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
SCN5A
(G35S)
Single nucleotide variant
(missense variant)
SCN5A-related disorder
+5 more
GConflicting classifications of pathogenicity
ANK2
(H1533Q +43 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
ANK2
(G1639del +43 more)
Deletion
(inframe_deletion)
Brugada syndrome
GLikely benign
CACNA2D1
(S755T +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+2 more
GBenign
CACNA2D1
(P147S)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
KCNH2
(R784W +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ANKRD1
(L204F)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
MYBPC3
(Y1136del)
Microsatellite
(inframe_deletion)
Brugada syndrome
+8 more
GConflicting classifications of pathogenicity
MYBPC3
(P910T)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 10
+8 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(A1717G +10 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
KCNJ8
(R394S)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
KCNJ8
(R28P)
Single nucleotide variant
(missense variant)
Cardiac arrest
+2 more
GUncertain significance
HCN4
(E153G)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
TTR
(R124C)
Single nucleotide variant
(missense variant)
Conduction disorder of the heart
+9 more
GUncertain significance
TRPM4
(Y103C)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+4 more
GConflicting classifications of pathogenicity
HRC, TRPM4
(A432T +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+5 more
GConflicting classifications of pathogenicity
HRC, TRPM4
(G582S +4 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+5 more
GConflicting classifications of pathogenicity
SNTA1
(R274Q)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
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