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Links from Gene

Items: 1 to 100 of 3315

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
(W310* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
KCNH2
(R242P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNH2
(V304fs +4 more)
Duplication
(frameshift variant +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
(P577fs +2 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(G533fs +2 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
(R191P +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(T103A +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNH2
(I23fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
KCNH2
(Q291* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
KCNH2
(R152P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNH2
(Y54S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
KCNH2
(E189* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
KCNH2
Deletion
(inframe_indel +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(A322D +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GLikely pathogenic
KCNH2
(G263A +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNH2
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
KCNH2
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
(A350V +3 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
KCNH2
(N479K +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
(L1027fs +2 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
(I19T)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GUncertain significance
KCNH2
(L262fs +4 more)
Indel
(frameshift variant +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
(V27M)
Single nucleotide variant
(missense variant +2 more)
Long QT syndrome 2
GUncertain significance
KCNH2
(S184fs +3 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
(E1023* +2 more)
Single nucleotide variant
(nonsense +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
KCNH2
(V119M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNH2
(S366fs +4 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
Duplication
Long QT syndrome
GLikely pathogenic
AOC1, GIMAP1
+7 more
Duplication
Long QT syndrome
GUncertain significance
KCNH2
Deletion
Long QT syndrome
GPathogenic
KCNH2
Deletion
Long QT syndrome
GPathogenic
KCNH2
Deletion
Long QT syndrome
GPathogenic
ABCB8, ABCF2
+19 more
Deletion
Long QT syndrome
GPathogenic
KCNH2
Deletion
Long QT syndrome
GUncertain significance
KCNH2
Deletion
Long QT syndrome
GPathogenic
AOC1, GIMAP1
+7 more
Deletion
Long QT syndrome
GPathogenic
KCNH2
(Q25fs)
Insertion
(frameshift variant +1 more)
Long QT syndrome
GPathogenic
KCNH2
(I42F)
Single nucleotide variant
(missense variant +2 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(S161L +3 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
(D103E +3 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
KCNH2
(D1037fs +2 more)
Deletion
(frameshift variant +1 more)
Cardiovascular phenotype
GPathogenic
KCNH2
(Y40* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cardiovascular phenotype
GPathogenic
KCNH2
(S531A +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNH2
Deletion
(splice donor variant)
Cardiovascular phenotype
GLikely pathogenic
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
ABCB8, ABCF2
+125 more
Copy number gain
See cases
GPathogenic
KCNH2
(A1017fs +2 more)
Insertion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Duplication
Congenital long QT syndrome
GLikely pathogenic
KCNH2
(T1019fs +2 more)
Insertion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Deletion
(splice donor variant)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Deletion
(nonsense +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
(D556fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Deletion
(splice donor variant)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
(Y107H +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(N146K +3 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(A423P +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(P352L +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(V565fs +2 more)
Duplication
(frameshift variant)
Long QT syndrome
GPathogenic
KCNH2
(L633R +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(S640N +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(H491Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(I323M +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(G445D +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome
GUncertain significance
KCNH2
(P621L +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(I18L)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(D510N +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(P1029L +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(D556G +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
KCNH2
(S309A +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +2 more)
Long QT syndrome
GLikely benign
KCNH2
(N393T +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(K101T +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(M504T +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(A375fs +4 more)
Microsatellite
(frameshift variant +1 more)
Long QT syndrome
GPathogenic
KCNH2
Single nucleotide variant
(stop lost +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(N146S +3 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(K28R)
Single nucleotide variant
(missense variant +2 more)
Long QT syndrome
GUncertain significance
KCNH2
(N12I)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(P1018S +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(G206S +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(K546T +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(V8G)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(T1019P +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(H1057Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
Display optionsSort by RelevanceDownload
Format
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