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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(R1135H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNH2
Microsatellite
(inframe_insertion)
Cardiovascular phenotype
+6 more
GUncertain significance
KCNH2
(Y1009C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
(R1007H +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GUncertain significance
KCNH2
Indel
(inframe_indel)
not provided
GUncertain significance
KCNH2
(L615V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNH2
(R552H +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GUncertain significance
KCNH2
(N861I +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
(N462S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
KCNH2
(R784W +4 more)
Single nucleotide variant
(missense variant)
KCNH2-related condition
+6 more
GConflicting classifications of pathogenicity
KCNH2
(I371V +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
KCNH2
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic/Likely pathogenic
KCNH2
(V304I +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(A218T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
(A547T +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
KCNH2
(D169N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNH2
(R54C +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNH2
(T375A +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCNH2
(R328H +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNH2
(M308R +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
(S304I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
(R164H +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
KCNH2
(P63H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
KCNH2
(N33S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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