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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCN2
(M374L)
Single nucleotide variant
(missense variant)
HCN2 related developmental and epileptic encephalopathy
+2 more
GConflicting classifications of pathogenicity
HCN2
(N547fs)
Deletion
(frameshift variant)
Febrile seizures, familial, 2
GUncertain significance
HCN2
(L813fs)
Deletion
(frameshift variant)
Epilepsy, idiopathic generalized, susceptibility to, 17
GUncertain significance
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