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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(P2005A +5 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
SCN5A
(V1950M +5 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+11 more
GConflicting classifications of pathogenicity
SCN5A
(V1950L +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+13 more
GBenign/Likely benign
SCN5A
(S1933N +5 more)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+7 more
GUncertain significance
SCN5A
(E1784K +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+7 more
GPathogenic/Likely pathogenic
SCN5A
(R1644H +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GPathogenic
SCN5A
(F1616del +5 more)
Microsatellite
(inframe_deletion)
Cardiac arrhythmia
+11 more
GPathogenic/Likely pathogenic
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GConflicting classifications of pathogenicity
SCN5A
(V1377M +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R1305H +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+11 more
GConflicting classifications of pathogenicity
SCN5A
(R1193Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+13 more
GBenign/Likely benign
SCN5A
(V924I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
SCN5A
(R800H)
Single nucleotide variant
(missense variant)
not provided
+12 more
GUncertain significance
SCN5A
(D772N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GUncertain significance
SCN5A
(Q692K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+11 more
GConflicting classifications of pathogenicity
SCN5A
(A572D)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+13 more
GBenign/Likely benign
SCN5A
(R533H)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+18 more
GConflicting classifications of pathogenicity
SCN5A
(V411M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
SCN5A
(R222Q)
Single nucleotide variant
(missense variant +1 more)
Ventricular fibrillation, paroxysmal familial, type 1
+8 more
GPathogenic
SCN5A
(T220I)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
SCN5A
(R18W)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
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