ClinVar for Gene (Select 348980) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369711	NM_021072.4(HCN1):c.2653C>G (p.Arg885Gly)	HCN1 (R885G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369286	NM_021072.4(HCN1):c.1262_1279del (p.His421_Met427delinsLeu)	HCN1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 3368843	NM_021072.4(HCN1):c.2023C>A (p.His675Asn)	HCN1 (H675N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368310	NM_021072.4(HCN1):c.2514_2515del (p.Val839fs)	HCN1 (V839fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3367768	NM_021072.4(HCN1):c.2459C>T (p.Thr820Met)	HCN1 (T820M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367042	NM_021072.4(HCN1):c.1917C>G (p.Ile639Met)	HCN1 (I639M)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 10	GUncertain significance
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 3365228	NM_021072.4(HCN1):c.1217dup (p.Tyr407fs)	HCN1 (Y407fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3364945	NM_021072.4(HCN1):c.976C>T (p.Pro326Ser)	HCN1 (P326S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362204	NM_021072.4(HCN1):c.1625G>T (p.Cys542Phe)	HCN1 (C542F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361935	NM_021072.4(HCN1):c.2T>C (p.Met1Thr)	HCN1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360673	NM_021072.4(HCN1):c.1006A>G (p.Met336Val)	HCN1 (M336V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360595	NM_021072.4(HCN1):c.1378-1G>A	HCN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3360207	NM_021072.4(HCN1):c.359del (p.Val120fs)	HCN1 (V120fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 3353470	NM_021072.4(HCN1):c.2438C>G (p.Ala813Gly)	HCN1 (A813G)	Single nucleotide variant (missense variant)	HCN1-related disorder	GUncertain significance
Select item 3349183	NM_021072.4(HCN1):c.367G>T (p.Glu123Ter)	HCN1 (E123*)	Single nucleotide variant (nonsense)	HCN1-related disorder	GUncertain significance
Select item 3345765	NM_021072.4(HCN1):c.249C>A (p.Asp83Glu)	HCN1 (D83E)	Single nucleotide variant (missense variant)	HCN1-related disorder	GUncertain significance
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 3283622	NM_021072.4(HCN1):c.1763T>C (p.Ile588Thr)	HCN1 (I588T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283621	NM_021072.4(HCN1):c.46G>C (p.Asp16His)	HCN1 (D16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257529	NM_021072.4(HCN1):c.1689A>C (p.Ser563=)	HCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256856	NM_021072.4(HCN1):c.1783+602T>C	HCN1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3254995	NM_021072.4(HCN1):c.1718T>G (p.Leu573Arg)	HCN1 (L573R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 10	GUncertain significance
Select item 3252500	NM_021072.4(HCN1):c.1678C>T (p.Arg560Cys)	HCN1 (R560C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246317	NC_000005.9:g.(?_45695975)_(45696384_?)del	HCN1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246316	NC_000005.9:g.(?_42688972)_(45303961_?)dup	ANXA2R, C5orf34 +12 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246315	NC_000005.9:g.(?_45262023)_(45396832_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246314	NC_000005.9:g.(?_45353182)_(45396832_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246313	NC_000005.9:g.(?_45262023)_(45462129_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246312	NC_000005.9:g.(?_45396574)_(45462129_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246311	NC_000005.9:g.(?_45353182)_(45645730_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246309	NC_000005.9:g.(?_45461928)_(45696195_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246308	NC_000005.9:g.(?_45262003)_(45262932_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246307	NC_000005.9:g.(?_45262003)_(45303961_?)del	HCN1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	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 3104495	NM_021072.4(HCN1):c.2044A>G (p.Ser682Gly)	HCN1 (S682G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104494	NM_021072.4(HCN1):c.181G>A (p.Val61Met)	HCN1 (V61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104493	NM_021072.4(HCN1):c.1450G>T (p.Val484Leu)	HCN1 (V484L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3062867	GRCh37/hg19 5p12(chr5:44724513-45359250)x3	HCN1, MRPS30	Copy number gain	not specified	GUncertain significance
Select item 3062821	GRCh37/hg19 5p12-11(chr5:43949281-46116307)x1	FGF10, HCN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 3052815	NM_021072.4(HCN1):c.639C>A (p.Ile213=)	HCN1	Single nucleotide variant (synonymous variant)	HCN1-related disorder	GLikely benign
Select item 3026527	NM_021072.4(HCN1):c.2039C>A (p.Ser680Tyr)	HCN1 (S680Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023856	NM_021072.4(HCN1):c.1190T>A (p.Ile397Asn)	HCN1 (I397N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3023396	NM_021072.4(HCN1):c.2528G>A (p.Arg843Gln)	HCN1 (R843Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3022307	NM_021072.4(HCN1):c.2296G>A (p.Glu766Lys)	HCN1 (E766K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3020445	NM_021072.4(HCN1):c.99C>T (p.Ala33=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3017993	NM_021072.4(HCN1):c.45C>T (p.Asp15=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 3013478	NM_021072.4(HCN1):c.425+10C>G	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3012411	NM_021072.4(HCN1):c.336C>T (p.Arg112=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3009013	NM_021072.4(HCN1):c.1416A>G (p.Thr472=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3008209	NM_021072.4(HCN1):c.1619-10G>C	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3002179	NM_021072.4(HCN1):c.1543A>G (p.Ile515Val)	HCN1 (I515V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3001882	NM_021072.4(HCN1):c.1251C>T (p.Tyr417=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2999806	NM_021072.4(HCN1):c.1784-7C>T	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2998095	NM_021072.4(HCN1):c.1742G>A (p.Arg581Lys)	HCN1 (R581K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2996123	NM_021072.4(HCN1):c.425+13G>T	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2993464	NM_021072.4(HCN1):c.564G>A (p.Leu188=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2984340	NM_021072.4(HCN1):c.1069C>T (p.Leu357=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2983214	NM_021072.4(HCN1):c.1377+6A>T	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2980061	NM_021072.4(HCN1):c.104C>T (p.Ala35Val)	HCN1 (A35V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2970520	NM_021072.4(HCN1):c.1257A>G (p.Ser419=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2970316	NM_021072.4(HCN1):c.2050A>C (p.Ser684Arg)	HCN1 (S684R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	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 2963289	NM_021072.4(HCN1):c.1378-16C>T	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2961880	NM_021072.4(HCN1):c.2550C>T (p.Ile850=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2960838	NM_021072.4(HCN1):c.1038A>G (p.Ser346=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2959086	NM_021072.4(HCN1):c.2379G>A (p.Leu793=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2958291	NM_021072.4(HCN1):c.204_205insAGCCTCAGCTTCAGCACCAGCCGCACCGGAGCCCGGACCGCAGCCACTAAG (p.Gly68_Gly69insSerLeuSerPheSerThrSerArgThrGlyAlaArgThrAlaAlaThrLys)	HCN1	Insertion (inframe_insertion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2956209	NM_021072.4(HCN1):c.1783+18C>T	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2955686	NM_021072.4(HCN1):c.27T>G (p.Ser9=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2955611	NM_021072.4(HCN1):c.2590G>A (p.Ala864Thr)	HCN1 (A864T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2918272	NM_021072.4(HCN1):c.849+11T>A	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2916975	NM_021072.4(HCN1):c.2555C>T (p.Pro852Leu)	HCN1 (P852L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2916436	NM_021072.4(HCN1):c.1231-11C>T	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2915109	NM_021072.4(HCN1):c.2318C>G (p.Ala773Gly)	HCN1 (A773G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2913131	NM_021072.4(HCN1):c.199G>A (p.Gly67Ser)	HCN1 (G67S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2911335	NM_021072.4(HCN1):c.1793A>G (p.Asn598Ser)	HCN1 (N598S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2903950	NM_021072.4(HCN1):c.1619-19T>C	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2902065	NM_021072.4(HCN1):c.2605A>G (p.Arg869Gly)	HCN1 (R869G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2900770	NM_021072.4(HCN1):c.2559C>G (p.Asn853Lys)	HCN1 (N853K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2898272	NM_021072.4(HCN1):c.33T>C (p.Ser11=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2897745	NM_021072.4(HCN1):c.2018T>A (p.Leu673Gln)	HCN1 (L673Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2891566	NM_021072.4(HCN1):c.1777C>A (p.Arg593=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2888901	NM_021072.4(HCN1):c.492C>A (p.Ile164=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2885911	NM_021072.4(HCN1):c.1029G>A (p.Lys343=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2879605	NM_021072.4(HCN1):c.1742G>C (p.Arg581Thr)	HCN1 (R581T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2878007	NM_021072.4(HCN1):c.1378-11G>A	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2874306	NM_021072.4(HCN1):c.705C>G (p.Ile235Met)	HCN1 (I235M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2873668	NM_021072.4(HCN1):c.2043C>T (p.Pro681=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2872561	NM_021072.4(HCN1):c.1953G>C (p.Ser651=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2867063	NM_021072.4(HCN1):c.2208G>A (p.Gln736=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2867054	NM_021072.4(HCN1):c.71A>C (p.Lys24Thr)	HCN1 (K24T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2866247	NM_021072.4(HCN1):c.1998G>C (p.Pro666=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2864827	NM_021072.4(HCN1):c.577A>C (p.Asn193His)	HCN1 (N193H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2864535	NM_021072.4(HCN1):c.111G>A (p.Lys37=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2862278	NM_021072.4(HCN1):c.166T>A (p.Ser56Thr)	HCN1 (S56T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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