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Items: 1 to 100 of 1278

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(R1992fs +5 more)
Deletion
(frameshift variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+1 more
GConflicting classifications of pathogenicity
SCN5A
(V1962E +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SCN5A
(V2015M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
SCN5A
(R2011C +5 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
SCN5A
(R1977G +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(D1990E +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SCN5A
(P2007L +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
SCN5A
(P1952T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SCN5A
(P2005A +5 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SCN5A
(P1951H +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(P1986S +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(F1971I +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+10 more
GUncertain significance
SCN5A
(F2003V +5 more)
Single nucleotide variant
(missense variant)
Ventricular fibrillation, paroxysmal familial, type 1
+7 more
GConflicting classifications of pathogenicity
SCN5A
(F2003L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+12 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+3 more
GBenign/Likely benign
SCN5A
(A2001T +5 more)
Single nucleotide variant
(missense variant)
not specified
+11 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not specified
+11 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SCN5A
(D1982Y +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(D1946H +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(S1963N +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(D1940H +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN5A
(G1959V +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GLikely benign
SCN5A
(G1991A +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GLikely benign
SCN5A
(R1990Q +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GUncertain significance
SCN5A
(R1990W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+11 more
GUncertain significance
SCN5A
(V1989L +5 more)
Single nucleotide variant
(missense variant)
Ventricular fibrillation, paroxysmal familial, type 1
+8 more
GUncertain significance
SCN5A
(Q1988* +5 more)
Single nucleotide variant
(nonsense)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(L1987R +5 more)
Single nucleotide variant
(missense variant)
Ventricular fibrillation, paroxysmal familial, type 1
+9 more
GConflicting classifications of pathogenicity
SCN5A
(N1986K +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
SCN5A
(D1967N +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+2 more
GLikely benign
SCN5A
(T1930I +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
SCN5A
(A1982G +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SCN5A
(V1979F +5 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+7 more
GConflicting classifications of pathogenicity
SCN5A
(F1940L +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN5A
(S1971P +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN5A
Duplication
(inframe_insertion)
Cardiac arrhythmia
+8 more
GUncertain significance
SCN5A
(I1967M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GConflicting classifications of pathogenicity
SCN5A
(S1963F +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(P1961L +5 more)
Single nucleotide variant
(missense variant)
Ventricular fibrillation, paroxysmal familial, type 1
+9 more
GConflicting classifications of pathogenicity
SCN5A
(R1957L +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(R1957Q +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R1957* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
SCN5A
(S1899fs +5 more)
Microsatellite
(frameshift variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(E1953K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(S1899N +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+9 more
GConflicting classifications of pathogenicity
SCN5A
(V1950M +5 more)
Single nucleotide variant
(missense variant)
Ventricular fibrillation, paroxysmal familial, type 1
+11 more
GConflicting classifications of pathogenicity
SCN5A
(V1950L +5 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+8 more
GConflicting classifications of pathogenicity
SCN5A
(Y1949C +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN5A
(A1948T +5 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not specified
+11 more
GBenign/Likely benign
SCN5A
(R1943Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SCN5A
(R1943* +5 more)
Single nucleotide variant
(nonsense)
SCN5A-related disorder
+4 more
GConflicting classifications of pathogenicity
SCN5A
(E1885D +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(E1937K +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+3 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
GLikely benign
SCN5A
(G1934S +5 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
(G1914A +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
SCN5A
(A1931V +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+11 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
GLikely benign
SCN5A
(Q1911R +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(R1928H +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+11 more
GUncertain significance
SCN5A
(R1928C +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
SCN5A
(A1870V +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(A1924T +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN5A
(H1890Y +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
(K1868N +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(S1866A +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(R1865P +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(R1886H +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN5A
(R1918C +5 more)
Single nucleotide variant
(missense variant)
Ventricular fibrillation, paroxysmal familial, type 1
+10 more
GUncertain significance
SCN5A
(L1884P +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCN5A
(H1914Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(H1861Y +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN5A
(R1895S +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
GUncertain significance
SCN5A
(R1913G +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
(R1912H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GUncertain significance
SCN5A
(Q1908R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(M1873V +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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