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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ2
(D71H)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GConflicting classifications of pathogenicity
KCNJ2
(D78G)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GPathogenic
KCNJ2
(R218Q)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+4 more
GPathogenic
KCNJ2
(R325C)
Single nucleotide variant
(missense variant)
Ventricular fibrillation
+4 more
GConflicting classifications of pathogenicity
KCNJ2
(R423Q)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
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