ClinVar for OMIM (Select 615871) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382566	NM_021072.4(HCN1):c.499T>C (p.Phe167Leu)	HCN1 (F167L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +1 more	GLikely pathogenic
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)	Developmental and epileptic encephalopathy, 24 +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 2004527	NM_021072.4(HCN1):c.844G>A (p.Glu282Lys)	HCN1 (E282K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +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)	Developmental and epileptic encephalopathy, 24 +1 more	GUncertain significance
Select item 1679655	NM_021072.4(HCN1):c.1377+19834C>T	HCN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 24 +1 more	GUncertain significance
Select item 1342851	NM_021072.4(HCN1):c.928C>T (p.His310Tyr)	HCN1 (H310Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 1325609	NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu)	HCN1 (P722L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 1033972	NM_021072.4(HCN1):c.74C>A (p.Ala25Glu)	HCN1 (A25E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +2 more	GConflicting classifications of pathogenicity
Select item 1033971	NM_021072.4(HCN1):c.282G>A (p.Met94Ile)	HCN1 (M94I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +2 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 857604	NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly)	HCN1 (R593G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24 +3 more	GConflicting classifications of pathogenicity
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)	Developmental and epileptic encephalopathy, 24 +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)	Developmental and epileptic encephalopathy, 24 +4 more	GConflicting classifications of pathogenicity
Select item 579499	NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly)	HCN1 (A692G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
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)	Early infantile epileptic encephalopathy with suppression bursts +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 provided +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 provided +5 more	GBenign/Likely benign
Select item 193441	NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)	HCN1	Microsatellite (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts +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

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Links from OMIM

Items: 46