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Links from Gene

Items: 1 to 100 of 166

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(I315N +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
Duplication
Long QT syndrome
GLikely pathogenic
KCNH2
Deletion
Long QT syndrome
GPathogenic
KCNH2
Deletion
Long QT syndrome
GPathogenic
KCNH2
Deletion
Long QT syndrome
GPathogenic
KCNH2
Deletion
Long QT syndrome
GUncertain significance
KCNH2
Deletion
Long QT syndrome
GPathogenic
KCNH2
(I267V +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GUncertain significance
KCNH2
(C215R +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(P237S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNH2
(E265fs +3 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(A573E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
(S579fs +1 more)
Duplication
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(D126A +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GPathogenic
KCNH2
(L338R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
(D259fs)
Deletion
(frameshift variant)
not provided
GPathogenic
KCNH2
(L246V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
Deletion
(splice acceptor variant +1 more)
Prolonged QT interval
GLikely pathogenic
KCNH2
(F316fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(W410* +4 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
GPathogenic
KCNH2
(C49F)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(M137V +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
GUncertain significance
KCNH2
(P577Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
(A32V)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GPathogenic
KCNH2
(M305L +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GPathogenic
KCNH2
(T133I +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely pathogenic
KCNH2
Copy number loss
not provided
GLikely pathogenic
KCNH2
Deletion
(intron variant)
not provided
GLikely benign
KCNH2
(A78fs)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(R1035fs +1 more)
Duplication
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2, LOC129999612
Duplication
(intron variant)
not provided
GBenign
KCNH2
(V285L +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KCNH2
(I288T +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(Y276* +4 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
GPathogenic
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
(I31N)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(Q1068* +1 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
GPathogenic
KCNH2
Duplication
(nonsense +3 more)
Long QT syndrome 2
GPathogenic
KCNH2
(K639fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(L413R +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(I31S)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(F29S)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(R27P)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(R269W +3 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(S26I)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(H254Q +3 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNH2
(P251A +3 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNH2
(F22S)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(V215G +3 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNH2
(G187S +3 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNH2
(D16A)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(D111V +3 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(F106L +3 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(F106Y +3 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(A1058E +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNH2
(L1049P +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(D102V +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(Y99S +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(S620N +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(I96V +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(R608S +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(G585R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNH2
(N521T +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(N521H +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(I518T +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(P506T +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(S478P +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(A80V +1 more)
Single nucleotide variant
(missense variant)
Sudden cardiac death
Gnot provided
KCNH2
(G460E +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(G460W +7 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(A80P +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(G445A +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(A78P +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(V430A +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(D427Y +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(K417N +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(T74P +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(C383R +4 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNH2
(S366F +4 more)
Single nucleotide variant
(missense variant)
Acquired long QT syndrome
Gnot provided
KCNH2
(S366C +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(H70N +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(R356P +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(M1L)
Single nucleotide variant
(missense variant +1 more)
Congenital long QT syndrome
Gnot provided
KCNH2
(I322T +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(C66G +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(G317C +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(G317R +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(F316C +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(S309P +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(G308S +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(M305L +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(V304L +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(C64W +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(C64Y +1 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(F300V +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(K298N +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(E297G +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(N295K +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(N295D +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(N293I +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
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