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Links from MedGen

Items: 1 to 100 of 387

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(A1240G +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1E
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1E
GUncertain significance
SCN5A
(A1240T +2 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 1
+7 more
GUncertain significance
SCN5A
(P1952fs +5 more)
Deletion
(frameshift variant)
Brugada syndrome
+1 more
GUncertain significance
SCN5A
(M254L)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
(M1597L +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
(V1202M +2 more)
Single nucleotide variant
(missense variant)
SUDDEN INFANT DEATH SYNDROME
+9 more
GUncertain significance
SCN5A
(E867K)
Single nucleotide variant
(missense variant)
SUDDEN INFANT DEATH SYNDROME
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
not provided
+8 more
GUncertain significance
SCN5A
(N1777H +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+8 more
GUncertain significance
SCN5A
(I1833F +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
GUncertain significance
SCN5A
(R1252G +2 more)
Single nucleotide variant
(missense variant)
SUDDEN INFANT DEATH SYNDROME
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+9 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)
not provided
+9 more
GUncertain significance
SCN5A
(C1113Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
SCN5A
Duplication
(inframe_insertion)
SUDDEN INFANT DEATH SYNDROME
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
SUDDEN INFANT DEATH SYNDROME
+8 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+10 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 10
+9 more
GLikely benign
LOC110121269, SCN5A
Single nucleotide variant
(splice donor variant +1 more)
Dilated cardiomyopathy 1E
+1 more
GConflicting classifications of pathogenicity
SCN5A
(F170I)
Single nucleotide variant
(missense variant)
Brugada syndrome
+9 more
GUncertain significance
SCN5A
(I759V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
SCN5A
(L1301P +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+1 more
GUncertain significance
SCN5A
(G538V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+8 more
GUncertain significance
SCN5A
(R1793G +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+8 more
GUncertain significance
SCN5A
(E1822V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+8 more
GUncertain significance
SCN5A
(E1884D +5 more)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 1
+8 more
GUncertain significance
LOC110121269, SCN5A
(R1023P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GUncertain significance
SCN5A
(C1485Y +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GUncertain significance
SCN5A
(P153L)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+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)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
(T1077S +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+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
(L1140M +2 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
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)
Cardiovascular phenotype
+10 more
GUncertain significance
SCN5A
(S1899N +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
SCN5A
(D1801N +5 more)
Indel
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
SCN5A
(G652D)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+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)
Ventricular fibrillation, paroxysmal familial, type 1
+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)
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)
Sick sinus syndrome 1
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+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)
Cardiac arrhythmia
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(5 prime UTR variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
(K1305T +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron 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)
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
(synonymous variant)
Sick sinus syndrome 1
+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)
Progressive familial heart block, type 1A
+5 more
GBenign/Likely benign
SCN5A
(P1776T +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
(M1788L +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+6 more
GUncertain significance
SCN5A
(N1215S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
SCN5A
(D1656N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+1 more
GUncertain significance
SCN5A
(T765I)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+9 more
GUncertain significance
SCN5A
(D1736N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1E
+8 more
GUncertain significance
SCN5A
(T486S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
SCN5A
(S106G)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
(G874D)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
(D82E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GUncertain significance
SCN5A
(M506K)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+10 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+8 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+10 more
GLikely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
SCN5A
(R1262Q +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+9 more
GUncertain significance
SCN5A
(A1094T +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+9 more
GUncertain significance
SCN5A
(V728I)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+11 more
GUncertain significance
SCN5A
(V1989L +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+8 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+9 more
GConflicting classifications of pathogenicity
SCN5A
(S1430C +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+6 more
GUncertain significance
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