ClinVar for MedGen (Select 862968) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366984	NM_021072.4(HCN1):c.701A>G (p.Tyr234Cys)	HCN1 (Y234C)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 10 +1 more	GLikely pathogenic
Select item 3358955	NM_021072.4(HCN1):c.1171G>T (p.Gly391Cys)	HCN1 (G391C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GPathogenic
Select item 3341424	NM_021072.4(HCN1):c.57C>A (p.Ser19Arg)	HCN1 (S19R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 3242018	NM_021072.4(HCN1):c.2654G>T (p.Arg885Leu)	HCN1 (R885L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 3234981	NM_021072.4(HCN1):c.2230C>T (p.Pro744Ser)	HCN1 (P744S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 3234083	NM_021072.4(HCN1):c.986G>T (p.Cys329Phe)	HCN1 (C329F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 3065924	NM_021072.4(HCN1):c.195_200del (p.Gly73_Gly74del)	HCN1	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 2963474	NM_021072.4(HCN1):c.2246A>C (p.Gln749Pro)	HCN1 (Q749P)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 2724937	NM_021072.4(HCN1):c.159C>A (p.His53Gln)	HCN1 (H53Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2627061	NM_021072.4(HCN1):c.1096C>A (p.Pro366Thr)	HCN1 (P366T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GLikely pathogenic
Select item 2582369	NM_021072.4(HCN1):c.1646G>A (p.Arg549His)	HCN1 (R549H)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 10 +1 more	GUncertain significance
Select item 1806339	NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)	HCN1 (I380N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 1803037	NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr)	HCN1 (N179Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GLikely pathogenic
Select item 1803035	NM_021072.4(HCN1):c.794T>A (p.Leu265His)	HCN1 (L265H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GLikely pathogenic
Select item 1679696	NM_021072.4(HCN1):c.849+66420G>T	HCN1	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 10 +1 more	GUncertain significance
Select item 1679655	NM_021072.4(HCN1):c.1377+19834C>T	HCN1	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 10 +1 more	GUncertain significance
Select item 1342851	NM_021072.4(HCN1):c.928C>T (p.His310Tyr)	HCN1 (H310Y)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 10 +1 more	GUncertain significance
Select item 1325609	NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu)	HCN1 (P722L)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 10 +2 more	GUncertain significance
Select item 1033972	NM_021072.4(HCN1):c.74C>A (p.Ala25Glu)	HCN1 (A25E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1033971	NM_021072.4(HCN1):c.282G>A (p.Met94Ile)	HCN1 (M94I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1028215	NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro)	HCN1 (T650P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 983135	NM_021072.4(HCN1):c.1012-3C>T	HCN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 976076	NM_021072.4(HCN1):c.1562G>T (p.Gly521Val)	HCN1 (G521V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GPathogenic
Select item 848402	NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr)	HCN1 (A395T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +2 more	GConflicting classifications of pathogenicity
Select item 635189	NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser)	HCN1 (G391S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 625958	NM_021072.4(HCN1):c.2019G>A (p.Leu673=)	HCN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 24 +1 more	GUncertain significance
Select item 587588	NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser)	HCN1 (T585S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 581499	NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)	HCN1 (G74del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 576892	NM_021072.4(HCN1):c.2390T>G (p.Val797Gly)	HCN1 (V797G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 573431	NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup)	HCN1	Duplication (inframe_insertion)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 496679	NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer)	HCN1	Deletion (nonsense)	Developmental and epileptic encephalopathy, 24	GLikely pathogenic
Select item 384546	NM_021072.4(HCN1):c.913A>T (p.Met305Leu)	HCN1 (M305L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 375530	NM_021072.4(HCN1):c.459G>C (p.Met153Ile)	HCN1 (M153I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 375529	NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)	HCN1 (G391D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +1 more	GLikely pathogenic
Select item 198898	NM_021072.4(HCN1):c.2172C>T (p.Ala724=)	HCN1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 193442	NM_021072.4(HCN1):c.140G>T (p.Gly47Val)	HCN1 (G47V)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 193441	NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)	HCN1	Microsatellite (inframe_deletion)	not provided +4 more	GBenign/Likely benign
Select item 139575	NM_021072.4(HCN1):c.835C>T (p.His279Tyr)	HCN1 (H279Y)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 139574	NM_021072.4(HCN1):c.890G>C (p.Arg297Thr)	HCN1 (R297T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GPathogenic
Select item 139573	NM_021072.4(HCN1):c.814T>C (p.Ser272Pro)	HCN1 (S272P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 139572	NM_021072.4(HCN1):c.299C>T (p.Ser100Phe)	HCN1 (S100F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 139571	NM_021072.4(HCN1):c.1201G>C (p.Asp401His)	HCN1 (D401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 42