Related gene-specific medical variations for Gene (Select 348980) - ClinVar

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Links from Gene

Items: 47

	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 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 3246317	NC_000005.9:g.(?_45695975)_(45696384_?)del	HCN1	Deletion	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 3065924	NM_021072.4(HCN1):c.195_200del (p.Gly73_Gly74del)	HCN1	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 24	GUncertain significance
Select item 2684414	GRCh37/hg19 5p12-11(chr5:45551410-46389339)x3	HCN1	Copy number gain	not provided	GUncertain significance
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 2432384	NM_021072.4(HCN1):c.287G>A (p.Arg96Lys)	HCN1 (R96K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432383	NM_021072.4(HCN1):c.116T>A (p.Leu39Gln)	HCN1 (L39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432382	NM_021072.4(HCN1):c.2086C>T (p.Pro696Ser)	HCN1 (P696S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432381	NM_021072.4(HCN1):c.731A>G (p.Asp244Gly)	HCN1 (D244G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432380	NM_021072.4(HCN1):c.907G>A (p.Gly303Ser)	HCN1 (G303S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808268	GRCh37/hg19 5p12-11(chr5:45376992-46389339)x3	HCN1	Copy number gain	not provided	GUncertain significance
Select item 1807642	GRCh37/hg19 5p12-11(chr5:45283312-46389339)x3	HCN1	Copy number gain	not provided	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 1704346	GRCh37/hg19 5p12-q11.1(chr5:45650231-49447301)x3	HCN1	Copy number gain	MISSED ABORTION	GUncertain significance
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 1676397	NM_021072.4(HCN1):c.959C>T (p.Pro320Leu)	HCN1 (P320L)	Single nucleotide variant	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1341224	GRCh37/hg19 5p12(chr5:45471607-46010277)x3	HCN1	Copy number gain	not provided	GUncertain significance
Select item 1341012	GRCh37/hg19 5p12-11(chr5:45378529-46136706)x3	HCN1	Copy number gain	not provided	GUncertain significance
Select item 979498	GRCh37/hg19 5p12(chr5:45455695-45647744)x3	HCN1	Copy number gain	not provided	GUncertain significance
Select item 975705	NM_021072.4(HCN1):c.661T>C (p.Trp221Arg)	HCN1 (W221R)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 809754	NM_021072.4(HCN1):c.2556G>T (p.Pro852=)	HCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711734	NM_021072.3:c.850-?_1377+?del	HCN1	Deletion	not provided	GLikely benign
Select item 685059	GRCh37/hg19 5p12(chr5:45407119-45521734)x1	HCN1	Copy number loss	not provided	GUncertain significance
Select item 624518	GRCh37/hg19 5p12(chr5:45519525-45693058)x1	HCN1	Copy number loss	not provided	GUncertain significance
Select item 493408	NM_021072.4(HCN1):c.185A>T (p.Asp62Val)	HCN1 (D62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443903	GRCh37/hg19 5p12-11(chr5:45665996-46199398)x1	HCN1	Copy number loss	See cases	GUncertain significance
Select item 442474	GRCh37/hg19 5p12-11(chr5:45593654-46389339)x3	HCN1	Copy number gain	See cases	GUncertain significance
Select item 441714	GRCh37/hg19 5p12-11(chr5:45362150-46389339)x3	HCN1	Copy number gain	See cases	GUncertain significance
Select item 394911	GRCh37/hg19 5p12(chr5:45273586-46098868)x3	HCN1	Copy number gain	See cases	GUncertain significance
Select item 148902	GRCh38/hg38 5p12(chr5:45003649-45362262)x1	HCN1	Copy number loss	See cases	GUncertain significance
Select item 92010	NM_021072.4(HCN1):c.528T>C (p.Ile176=)	HCN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Links from Gene

Items: 47