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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN2
(R601Q +2 more)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+1 more
GUncertain significance
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+1 more
GUncertain significance
CLCN2
(W570* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
CLCN2
(I329fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(R235Q +1 more)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+3 more
GConflicting classifications of pathogenicity
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