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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
Deletion
(inframe_deletion)
not provided
GUncertain significance
SCN5A
(R1957* +5 more)
Single nucleotide variant
(nonsense)
not provided
+10 more
GConflicting classifications of pathogenicity
SCN5A
(R1943* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SCN5A
(R1928H +5 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SCN5A
(R1918C +5 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GUncertain significance
SCN5A
(L1884P +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SCN5A
(H1914Q +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN5A
(L1842F +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(I1659V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+3 more
GConflicting classifications of pathogenicity
SCN5A
(M1597L +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
(T1644M +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN5A
(R1582C +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 3
+11 more
GConflicting classifications of pathogenicity
SCN5A
(C1520F +4 more)
Indel
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(I1523T +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(N1497S +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(K1499N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN5A
(M1486L +4 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
SCN5A
(G1318V +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+12 more
GConflicting classifications of pathogenicity
SCN5A
(E1264* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SCN5A
Single nucleotide variant
(splice donor variant)
Cardiac arrhythmia
+1 more
GPathogenic
SCN5A
(Y1240S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(L1140M +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
(C1125S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC110121269, SCN5A
(W1094* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC110121269, SCN5A
(E1064del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
LOC110121269, SCN5A
(Q1033*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
LOC110121269, SCN5A
(P1021S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LOC110121269, SCN5A
(L959P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN5A
(L914F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(D872N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN5A
(F851fs)
Microsatellite
(frameshift variant)
Cardiovascular phenotype
+11 more
GPathogenic
SCN5A
(V850M)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+4 more
GUncertain significance
SCN5A
(I848F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SCN5A
(N834D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN5A
(R814Q)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
SCN5A
(G797A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(L796M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(Y774D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN5A
(P773S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
(D772N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GUncertain significance
SCN5A
(L729F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(I696N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(A662S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SCN5A
(D651H)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN5A
(R569W)
Single nucleotide variant
(missense variant)
Brugada syndrome
+10 more
GUncertain significance
SCN5A
(G552W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SCN5A
(R535*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
SCN5A
(M414V)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(D349N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
(R340W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SCN5A
(R282H)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GPathogenic/Likely pathogenic
SCN5A
(M254L)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+8 more
GUncertain significance
SCN5A
(R225W)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+11 more
GPathogenic/Likely pathogenic
SCN5A
(T220A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN5A
(R219C)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 1
+4 more
GConflicting classifications of pathogenicity
SCN5A
(R190W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SCN5A
(F170I)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
SCN5A
Single nucleotide variant
(splice acceptor variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SCN5A
(D82E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GUncertain significance
SCN5A
(A60P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(R27C)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(P7S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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