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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(D1982Y +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN5A
(S1903L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SCN5A
(R1896W +5 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GUncertain significance
SCN5A
(M1841V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN5A
(Q1831E +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN5A
(E1822K +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GUncertain significance
SCN5A
(D1819N +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
SCN5A
(S1754fs +5 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
SCN5A
(S1710L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GPathogenic/Likely pathogenic
SCN5A
(R1644H +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GPathogenic
SCN5A
(R1628* +5 more)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
+2 more
GPathogenic
SCN5A
(F1616del +5 more)
Microsatellite
(inframe_deletion)
Cardiac arrhythmia
+11 more
GPathogenic/Likely pathogenic
SCN5A
(F1595I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+13 more
GConflicting classifications of pathogenicity
SCN5A
(R1512W +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SCN5A
(K1492R +4 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
SCN5A
(N1442S +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GConflicting classifications of pathogenicity
SCN5A
(F1316C +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN5A
(R1302Q +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+3 more
GConflicting classifications of pathogenicity
SCN5A
(D1242N +2 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+8 more
GConflicting classifications of pathogenicity
SCN5A
(R1232W +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(A1179V +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(S1102F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+10 more
GUncertain significance
LOC110121269, SCN5A
(Q1097K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC110121269, SCN5A
(E1053K)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+5 more
GConflicting classifications of pathogenicity
SCN5A
(T731I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(Q646fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
SCN5A
(G615E)
Single nucleotide variant
(missense variant)
Brugada syndrome
+6 more
GConflicting classifications of pathogenicity
SCN5A
Deletion
(inframe_deletion)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SCN5A
(S571I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(R526C)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(R517K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN5A
(K496N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(A447G)
Single nucleotide variant
(missense variant)
not specified
+11 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(splice donor variant)
Congenital long QT syndrome
+3 more
GPathogenic/Likely pathogenic
SCN5A
(E428K)
Single nucleotide variant
(missense variant)
not specified
+11 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SCN5A
(R376H)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+10 more
GPathogenic/Likely pathogenic
SCN5A
(R367C)
Single nucleotide variant
(missense variant)
not provided
+13 more
GPathogenic/Likely pathogenic
SCN5A
(T353I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SCN5A
(D349N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
(V281A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(V232I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R225W)
Single nucleotide variant
(missense variant +1 more)
SCN5A-related disorder
+11 more
GPathogenic/Likely pathogenic
SCN5A
(R190G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
(D152N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(D82E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GUncertain significance
SCN5A
(G69D)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(P52S)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GUncertain significance
SCN5A
(R14H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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