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Links from MedGen

Items: 1 to 100 of 535

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(F1419I +4 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 1
+1 more
GLikely pathogenic
SCN5A
(I1794S +5 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 1
GUncertain significance
SCN5A
(R893S)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 1
GLikely pathogenic
SCN5A
(T902S)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 1
GUncertain significance
SCN5A
(Y168*)
Single nucleotide variant
(nonsense +1 more)
Brugada syndrome 1
+1 more
GLikely pathogenic
SCN5A
Single nucleotide variant
(splice acceptor variant)
Brugada syndrome 1
+1 more
GLikely pathogenic
SCN5A
(S1913fs +5 more)
Deletion
(frameshift variant +1 more)
Brugada syndrome 1
GUncertain significance
SCN5A
(A1240T +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrial fibrillation, familial, 10
+7 more
GUncertain significance
SCN5A
(C280*)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GLikely pathogenic
LOC110121269, SCN5A
(L935V)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+1 more
GUncertain significance
SCN5A
(S36fs)
Duplication
(frameshift variant)
Brugada syndrome 1
GPathogenic
SCN1B
(D120fs +1 more)
Indel
(frameshift variant)
Brugada syndrome 1
GUncertain significance
SCN5A
(Q59*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
SCN5A
(M254L)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+8 more
GUncertain significance
SCN5A
(M1597L +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome 1
GLikely pathogenic
SCN5A
(R893L)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GPathogenic
SCN5A
(F1698del +5 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
(V1202M +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
SCN5A
(E867K)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+9 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
Progressive familial heart block, type 1A
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GLikely pathogenic
SCN5A
(N1777H +5 more)
Single nucleotide variant
(missense variant)
SUDDEN INFANT DEATH SYNDROME
+8 more
GUncertain significance
SCN5A
Deletion
(splice donor variant +1 more)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
SCN5A
(R1252G +2 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
Cardiac arrhythmia
+10 more
GUncertain significance
SCN5A
(F1643L +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+8 more
GUncertain significance
SCN5A
(C1124S +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
(C1113Y +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
Duplication
(inframe_insertion)
Atrial fibrillation, familial, 10
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Long QT syndrome 3
+8 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+10 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GLikely benign
SCN5A
(F170I)
Single nucleotide variant
(missense variant)
Brugada syndrome
+9 more
GUncertain significance
SCN5A
(T353S)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+1 more
GUncertain significance
SCN5A
(T1930I +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN5A
(I759V)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+10 more
GUncertain significance
SCN5A
(G538V)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+8 more
GUncertain significance
SCN5A
(R1793G +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
(E1822V +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
(G926D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
(P1452S +4 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+1 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(splice donor variant)
Brugada syndrome 1
GPathogenic
SCN5A
(E1177* +2 more)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GPathogenic
SCN5A
(T1093N +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+3 more
GUncertain significance
SCN5A
(Q779fs)
Deletion
(frameshift variant)
Long QT syndrome 3
+1 more
GLikely pathogenic
SCN5A
(E1884D +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+9 more
GUncertain significance
SCN5A
(H617L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN5A
(E1891fs +5 more)
Deletion
(frameshift variant)
Brugada syndrome 1
+1 more
GUncertain significance
SCN5A
(G400W)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
GLikely pathogenic
SCN5A
(E655*)
Single nucleotide variant
(nonsense)
Brugada syndrome 1
GPathogenic
SCN5A
(R693L)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+3 more
GUncertain significance
LOC110121269, SCN5A
(R1023P)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+10 more
GUncertain significance
SCN5A
(M520V)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+3 more
GConflicting classifications of pathogenicity
SCN5A
(C1485Y +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+10 more
GUncertain significance
SCN5A
(P153L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GUncertain significance
SCN5A
(F1971I +5 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
SCN5A
(R620H)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
SCN5A
(T1077S +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
SCN5A
(M463R)
Single nucleotide variant
(missense variant)
Brugada syndrome
+9 more
GUncertain significance
LOC110121269, SCN5A
(S1102F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+10 more
GUncertain significance
SCN5A
(R1306C +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(L1140M +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
SCN5A
(V850M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SCN5A
(R43*)
Single nucleotide variant
(nonsense)
Cardiac arrhythmia
+2 more
GPathogenic
SCN5A
(C1175R +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+8 more
GConflicting classifications of pathogenicity
SCN5A
(C649Y)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
SCN5A
(S1899N +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GConflicting classifications of pathogenicity
SCN5A
(D1801N +5 more)
Indel
(missense variant)
Cardiac arrhythmia
+9 more
GConflicting classifications of pathogenicity
SCN5A
(G652D)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
SCN5A
(G77R)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
(D1687N +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+8 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)
Dilated cardiomyopathy 1E
+5 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)
Brugada syndrome 1
+5 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous 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)
Long QT syndrome 3
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
LOC110121269, SCN5A
(C982Y)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
SCN5A
(T1115S +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GConflicting classifications of pathogenicity
SCN5A
(C1122Y +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
(R219P)
Single nucleotide variant
(intron variant +1 more)
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)
Brugada syndrome 1
+5 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
LOC110121269, SCN5A
Single nucleotide variant
(synonymous 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)
Dilated cardiomyopathy 1E
+6 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1E
+5 more
GUncertain significance
LOC110121269, SCN5A
(A1088S +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 3
+5 more
GUncertain significance
SCN5A
(T1182I +2 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block, type 1A
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(5 prime UTR variant)
Brugada syndrome 1
+5 more
GUncertain significance
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