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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCN1
(R549H)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
+1 more
GUncertain significance
HCN1
Duplication
(inframe_insertion)
Generalized epilepsy with febrile seizures plus, type 10
GUncertain significance
HCN1
(M487T)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GUncertain significance
HCN1
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 10
+1 more
GUncertain significance
HCN1
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 10
+1 more
GUncertain significance
HCN1
(V390A)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GPathogenic
HCN1
(I380F)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
HCN1
(A395G)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GPathogenic
HCN1
(S710fs)
Microsatellite
(frameshift variant)
Generalized epilepsy with febrile seizures plus, type 10
GLikely pathogenic
HCN1
(R405Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HCN1
(E240G)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GUncertain significance
HCN1
(H310Y)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
+1 more
GUncertain significance
HCN1
(P722L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 24
+2 more
GUncertain significance
HCN1
(A477T)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GUncertain significance
HCN1
(P210S)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GLikely pathogenic
HCN1
(R270*)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
HCN1, LOC126807381
+1 more
Duplication
Generalized epilepsy with febrile seizures plus, type 10
GUncertain significance
HCN1
(G441D)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GUncertain significance
HCN1
(L157V)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GPathogenic
HCN1
(V414M)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GPathogenic
HCN1
(C329S)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GPathogenic
HCN1
(R590Q)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GPathogenic
HCN1
(G391S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
HCN1
(M243R)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
GPathogenic
HCN1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 24
+1 more
GUncertain significance
HCN1
(G74del)
Microsatellite
(inframe_deletion)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
HCN1
Duplication
(inframe_insertion)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
HCN1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
HCN1
(G47V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+6 more
GBenign/Likely benign
HCN1
(S100F)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 10
+1 more
GPathogenic/Likely pathogenic
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