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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCN1
(G521V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 24
GPathogenic
HCN1
(A395T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HCN1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 24
GUncertain significance
HCN1
(S100F)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
+1 more
GPathogenic/Likely pathogenic
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