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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(L1042V +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
KCNH2
(P529L +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
KCNH2
(V340fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(M311R +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(A260P +3 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
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