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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(E1784K +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
SCN5A
(V411M)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GPathogenic
KCNH2
(R1014* +1 more)
Single nucleotide variant
(nonsense)
Long QT syndrome
+3 more
GPathogenic
KCNH2
(S566L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNH2
(V290L +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
KCNH2
(N289S +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
KCNH2
(G628S +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
KCNH2
(L275V +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(A614V +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GPathogenic
KCNH2
(I267fs +1 more)
Deletion
(frameshift variant)
Congenital long QT syndrome
GPathogenic
KCNH2
(P265L +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
KCNH2
(R191W +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
KCNH2
(Q81H +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(L69P +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GPathogenic
KCNQ1
(A178T +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GPathogenic/Likely pathogenic
KCNQ1
(A344V +3 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GPathogenic
KCNJ5
(I144V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
CACNA1C
(N639K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNJ2
(G144S)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GPathogenic
KCNE2, LOC105372791
(T10M)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
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