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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(P2005A +5 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
SCN5A
(V1950M +5 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+11 more
GConflicting classifications of pathogenicity
SCN5A
(V1950L +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+13 more
GBenign/Likely benign
SCN5A
(S1933N +5 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+7 more
GUncertain significance
SCN5A
(P1890A +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(E1784K +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+7 more
GPathogenic/Likely pathogenic
SCN5A
(F1691S +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrest
GUncertain significance
SCN5A
(G1660R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(I1659V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R1644H +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GPathogenic
SCN5A
(F1616del +5 more)
Microsatellite
(inframe_deletion)
Cardiac arrhythmia
+11 more
GPathogenic/Likely pathogenic
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GConflicting classifications of pathogenicity
SCN5A
(I1558V +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCN5A
(R1512W +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SCN5A
(P1505L +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
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
(A1124G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
GUncertain significance
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
(R800H)
Single nucleotide variant
(missense variant)
not provided
+12 more
GUncertain significance
SCN5A
(D772N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GUncertain significance
SCN5A
(I727fs)
Microsatellite
(frameshift variant)
Left ventricular noncompaction cardiomyopathy
GLikely pathogenic
SCN5A
(Q692K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+11 more
GConflicting classifications of pathogenicity
SCN5A
(R659W)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN5A
(P614S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
SCN5A
(A572F)
Indel
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SCN5A
(A572D)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+13 more
GBenign/Likely benign
SCN5A
(H557Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN5A
(R533H)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+18 more
GConflicting classifications of pathogenicity
SCN5A
(E418*)
Single nucleotide variant
(nonsense)
Sick sinus syndrome
GLikely pathogenic
SCN5A
(V411M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
SCN5A
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SCN5A
(E346K)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SCN5A
(S262R)
Single nucleotide variant
(missense variant)
Brugada syndrome
GLikely pathogenic
SCN5A
(V247L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SCN5A
(A242V)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
SCN5A
(R222Q)
Single nucleotide variant
(missense variant +1 more)
Ventricular fibrillation, paroxysmal familial, type 1
+8 more
GPathogenic
SCN5A
(T220I)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
SCN5A
(R190G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
(T187A)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GConflicting classifications of pathogenicity
SCN5A
(M138T)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
not provided
+3 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
SCN5A
(R18W)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
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