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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ5
(T158A)
Single nucleotide variant
(missense variant)
Aldosterone-producing adrenal adenoma, somatic
+1 more
GPathogenic
KCNJ5
(G387R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic
KCNJ2
Deletion
(inframe_deletion)
Andersen Tawil syndrome
Gnot provided
KCNJ2
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
KCNJ2
(L222S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KCNJ2
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GPathogenic
KCNJ2
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
KCNJ2
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
Gnot provided
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