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Items: 1 to 100 of 4175

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+176 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+51 more
Deletion
Brugada syndrome
GPathogenic
ACVR2B, EXOG
+6 more
Duplication
Brugada syndrome
GUncertain significance
LOC110121269, SCN5A
Duplication
Brugada syndrome
GUncertain significance
SCN5A
Deletion
Brugada syndrome
GLikely pathogenic
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Insertion
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GLikely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 3
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Brugada syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Ventricular fibrillation, paroxysmal familial, type 1
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+5 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 3
+5 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Brugada syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GConflicting classifications of pathogenicity
SCN5A
Duplication
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Brugada syndrome 1
+5 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+6 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Ventricular fibrillation, paroxysmal familial, type 1
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Ventricular fibrillation, paroxysmal familial, type 1
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Ventricular fibrillation, paroxysmal familial, type 1
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+6 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+6 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Ventricular fibrillation, paroxysmal familial, type 1
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Ventricular fibrillation, paroxysmal familial, type 1
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+6 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+6 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Sick sinus syndrome 1
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Progressive familial heart block, type 1A
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
(R1992fs +5 more)
Deletion
(frameshift variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN10A, LOC110121288
+3 more
Deletion
Brugada syndrome
GPathogenic
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
Duplication
(frameshift variant)
not provided
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Familial isolated arrhythmogenic right ventricular dysplasia
GPathogenic
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)
Cardiac arrhythmia
+8 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+1 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant +1 more)
Cardiac arrhythmia
GLikely benign
SCN5A
(S1960C +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN5A
(E1995G +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SCN5A
(R1958H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN5A
(R2011C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
SCN5A
(D2011E +5 more)
Single nucleotide variant
(missense variant)
Paroxysmal familial ventricular fibrillation
+6 more
GUncertain significance
SCN5A
(D1957G +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
GUncertain significance
SCN5A
(R1977S +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
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