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Links from Gene

Items: 1 to 100 of 3271

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(V565M +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(I447F +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(R332P +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
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(V3L)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(F1000L +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
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(H209Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(R228S +3 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
(I220M +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(L190P +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(L213F +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(M137T +3 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
(K34Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(A6T)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNH2
(N1050S +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(S259T +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(Q25L)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(V309L +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(E32D +1 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(D1060N +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(A575T +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
(G6D)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(V455G +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(P1026A +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNH2
(S478A +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
KCNH2
(G629S +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
KCNH2
(S1051C +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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