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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(L1045F +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNH2
(L615V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
KCNH2
(R412W +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+4 more
GPathogenic
KCNH2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
KCNH2
(N293S +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
KCNH2
(P292S +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KCNH2
(P265S +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GLikely pathogenic
KCNH2
(G244S +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+6 more
GPathogenic/Likely pathogenic
KCNH2
(R242P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNH2
(R191W +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KCNH2
(T133N +4 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
KCNH2
(W310* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
KCNH2
(R312C +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNH2
(A285V +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNH2
Deletion
(inframe_indel +1 more)
Long QT syndrome
+1 more
GUncertain significance
KCNH2
(V94G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNH2
(T74fs)
Deletion
(frameshift variant)
Long QT syndrome
+1 more
GPathogenic/Likely pathogenic
KCNH2
(A79fs)
Deletion
(frameshift variant)
Long QT syndrome 2
+2 more
GPathogenic
KCNH2
(P72Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
KCNH2
(P72S +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
KCNH2
(H70R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNH2
(I31del)
Microsatellite
(inframe_indel +1 more)
Long QT syndrome
+1 more
GUncertain significance
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