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Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(I397V)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN5A
(G1642E +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(E312K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(E1224Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(Y1449S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(G1366A +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SCN5A
(G351R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(L1578P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(Q73*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SCN5A
Deletion
(splice donor variant +1 more)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
SCN5A
(C335R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SCN5A
(E737G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
Deletion
(inframe_deletion +1 more)
not provided
GPathogenic
SCN5A
(V281M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(Y1395F +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
(D1736N +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
(I1739del +5 more)
Microsatellite
(inframe_deletion)
Brugada syndrome
+2 more
GConflicting classifications of pathogenicity
SCN5A
(I1585F +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SCN5A
(R1262Q +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+9 more
GUncertain significance
SCN5A
(R808C)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GConflicting classifications of pathogenicity
SCN5A
(D1689del +5 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
SCN5A
(T187S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
SCN5A
(R1232W +8 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GPathogenic
SCN5A
(R219C)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R526C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(L1500P +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SCN5A
(L1732fs +5 more)
Deletion
(frameshift variant)
Brugada syndrome 1
+3 more
GPathogenic/Likely pathogenic
SCN5A
(R219H)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN5A
(K1492del +4 more)
Microsatellite
(inframe_deletion)
Brugada syndrome
+2 more
GPathogenic/Likely pathogenic
LOC110121269, SCN5A
(E1064del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN5A
(F861fs)
Deletion
(frameshift variant)
Brugada syndrome
+3 more
GPathogenic
SCN5A
(G1660R +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+3 more
GConflicting classifications of pathogenicity
SCN5A
(A1356V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
SCN5A
(G274S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
(R222*)
Single nucleotide variant
(nonsense +1 more)
not provided
+11 more
GPathogenic
SCN5A
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
SCN5A
(A1427S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R1928C +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(V240M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(R225W)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 3
+11 more
GPathogenic/Likely pathogenic
SCN5A
(R1896W +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+13 more
GUncertain significance
SCN5A
(T1708M +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN5A
(V1603M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SCN5A
(R1582H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
SCN5A
(R1582C +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
SCN5A
(V1524M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(L1500V +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
SCN5A
(V1404M +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+1 more
GConflicting classifications of pathogenicity
SCN5A
(F1343L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(E1252G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(D1242N +2 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
SCN5A
(R1232W +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN5A
(E1224K +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R104W)
Single nucleotide variant
(missense variant)
Brugada syndrome (shorter-than-normal QT interval)
+10 more
GPathogenic/Likely pathogenic
SCN5A
(S910L)
Single nucleotide variant
(missense variant)
Brugada syndrome
+2 more
GConflicting classifications of pathogenicity
SCN5A
(E901K)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SCN5A
(R893H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R893C)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R878H)
Single nucleotide variant
(missense variant)
Brugada syndrome
+2 more
GConflicting classifications of pathogenicity
SCN5A
(R878C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SCN5A
(D84N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(E746K)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+11 more
GUncertain significance
SCN5A
(P717L)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN5A
(R620C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(L619F)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SCN5A
(G615E)
Single nucleotide variant
(missense variant)
Brugada syndrome
+6 more
GConflicting classifications of pathogenicity
SCN5A
(R526H)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
SCN5A
(V396L)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(W374G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SCN5A
(D356N)
Single nucleotide variant
(missense variant)
Brugada syndrome (shorter-than-normal QT interval)
+3 more
GPathogenic/Likely pathogenic
SCN5A
(Q1831E +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN5A
(D772N)
Single nucleotide variant
(missense variant)
not specified
+12 more
GUncertain significance
SCN5A
(P648L)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SCN5A
(E428K)
Single nucleotide variant
(missense variant)
SCN5A-related disorder
+11 more
GUncertain significance
SCN5A
(H445D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GUncertain significance
SCN5A
(G1262S +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+8 more
GConflicting classifications of pathogenicity
SCN5A
(A735V)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GPathogenic/Likely pathogenic
SCN5A
(R1512W +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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