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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(R1032Q +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+4 more
GUncertain significance
KCNH2
(D642N +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GConflicting classifications of pathogenicity
KCNH2
(R545H +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
KCNH2
(R176W +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
KCNH2
(K101E +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
KCNH2
(R100G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNH2
(L86R +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
GPathogenic
KCNH2
(T74M +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
KCNH2
(G47V)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
GPathogenic
KCNH2
(Y43D)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
GPathogenic
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