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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(P1093L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+4 more
GUncertain significance
KCNH2
(R553fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(R784W +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
KCNH2
(K298fs +4 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(W245* +4 more)
Single nucleotide variant
(nonsense +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(P347S +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+6 more
GConflicting classifications of pathogenicity
KCNH2
(R176W +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
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