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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(R2011C +5 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
SCN5A
(P2005A +5 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+11 more
GConflicting classifications of pathogenicity
SCN5A
(F2003L +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+12 more
GConflicting classifications of pathogenicity
SCN5A
(L1785P +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
GLikely pathogenic
SCN5A
(E1784K +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
SCN5A
(T1778M +5 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+9 more
GConflicting classifications of pathogenicity
SCN5A
(M1765L +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
GPathogenic
SCN5A
(R1644H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic
SCN5A
(R1622L +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
GLikely pathogenic
SCN5A
(F1616del +5 more)
Microsatellite
(inframe_deletion)
Long QT syndrome
+11 more
GPathogenic/Likely pathogenic
SCN5A
(V1597A +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 3
+1 more
GUncertain significance
SCN5A
(I1480S +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
GUncertain significance
SCN5A
(G1501D +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
GUncertain significance
SCN5A
(Q1490* +4 more)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GPathogenic
SCN5A
(T1487K +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
GLikely pathogenic
SCN5A
(F1464L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(P1437S +4 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GLikely pathogenic
SCN5A
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 1
GLikely pathogenic
SCN5A
(N1379del +2 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SCN5A
(L1285del +2 more)
Microsatellite
(inframe_deletion)
Brugada syndrome 1
+1 more
GConflicting classifications of pathogenicity
SCN5A
(G1262S +2 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block, type 1A
+8 more
GConflicting classifications of pathogenicity
SCN5A
(E1177* +2 more)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GPathogenic
SCN5A
(E1111fs +2 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
LOC110121269, SCN5A
(S1102A +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 3
GUncertain significance
LOC110121269, SCN5A
(R975Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
SCN5A
Single nucleotide variant
(splice donor variant)
Brugada syndrome 1
GPathogenic
SCN5A
(R893L)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GPathogenic
SCN5A
(R893C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(M881I)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
(H738P)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GUncertain significance
SCN5A
(R693L)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+3 more
GUncertain significance
SCN5A
(E655*)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GPathogenic
SCN5A
(P648L)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 10
+11 more
GUncertain significance
SCN5A
(G615E)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+6 more
GConflicting classifications of pathogenicity
SCN5A
(R433H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCN5A
(V411M)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GPathogenic
SCN5A
(G400W)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GLikely pathogenic
SCN5A
(R367H)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GPathogenic
SCN5A
(D356Y)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GLikely pathogenic
SCN5A
(D356N)
Single nucleotide variant
(missense variant)
Brugada syndrome (shorter-than-normal QT interval)
+3 more
GPathogenic/Likely pathogenic
SCN5A
(D349N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
(V294M)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+11 more
GUncertain significance
SCN5A
(R225W)
Single nucleotide variant
(missense variant +1 more)
SCN5A-related disease
+11 more
GPathogenic/Likely pathogenic
SCN5A
(R222Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1E
+8 more
GPathogenic
SCN5A
(T220I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(splice donor variant)
Brugada syndrome 1
+4 more
GPathogenic
SCN5A
(R190W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
SCN5A
(W156*)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GPathogenic
SCN5A
(C145*)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GPathogenic
SCN5A
(I141N)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
SCN5A
(R121W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SCN5A
(E48K)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
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