"Ambry Genetics"[submitter] AND "HCN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587861	NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr)	HCN1 (P879T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2336399	NM_021072.4(HCN1):c.2634C>A (p.Asp878Glu)	HCN1 (D878E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1794077	NM_021072.4(HCN1):c.2632G>C (p.Asp878His)	HCN1 (D878H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424356	NM_021072.4(HCN1):c.2606G>A (p.Arg869Lys)	HCN1 (R869K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2058375	NM_021072.4(HCN1):c.2581C>G (p.Pro861Ala)	HCN1 (P861A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2539225	NM_021072.4(HCN1):c.2566G>A (p.Val856Ile)	HCN1 (V856I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 565312	NM_021072.4(HCN1):c.2560C>A (p.Arg854=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1792835	NM_021072.4(HCN1):c.2541G>A (p.Ser847=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 660646	NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser)	HCN1 (G831S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1792022	NM_021072.4(HCN1):c.2488G>T (p.Gly830Trp)	HCN1 (G830W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 530579	NM_021072.4(HCN1):c.2445C>A (p.Ile815=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 940229	NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser)	HCN1 (T807S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 412771	NM_021072.4(HCN1):c.2382C>T (p.Pro794=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588158	NM_021072.4(HCN1):c.2303A>C (p.His768Pro)	HCN1 (H768P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1518436	NM_021072.4(HCN1):c.2288C>G (p.Pro763Arg)	HCN1 (P763R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2350054	NM_021072.4(HCN1):c.2258C>T (p.Pro753Leu)	HCN1 (P753L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2398014	NM_021072.4(HCN1):c.2252C>T (p.Pro751Leu)	HCN1 (P751L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 588384	NM_021072.4(HCN1):c.2251C>G (p.Pro751Ala)	HCN1 (P751A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 728708	NM_021072.4(HCN1):c.2231C>T (p.Pro744Leu)	HCN1 (P744L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 461371	NM_021072.4(HCN1):c.2227C>G (p.Pro743Ala)	HCN1 (P743A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 652161	NM_021072.4(HCN1):c.2216A>G (p.Gln739Arg)	HCN1 (Q739R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198898	NM_021072.4(HCN1):c.2172C>T (p.Ala724=)	HCN1	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 10 +5 more	GBenign/Likely benign
Select item 589545	NM_021072.4(HCN1):c.2145A>G (p.Arg715=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
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 2160179	NM_021072.4(HCN1):c.1955C>G (p.Ser652Cys)	HCN1 (S652C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1783212	NM_021072.4(HCN1):c.1950A>C (p.Thr650=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1104981	NM_021072.4(HCN1):c.1950A>G (p.Thr650=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 2263575	NM_021072.4(HCN1):c.1949C>T (p.Thr650Ile)	HCN1 (T650I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 588153	NM_021072.4(HCN1):c.1936A>T (p.Thr646Ser)	HCN1 (T646S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147935	NM_021072.4(HCN1):c.1850A>G (p.Gln617Arg)	HCN1 (Q617R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 167167	NM_021072.4(HCN1):c.1797A>G (p.Ser599=)	HCN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 461365	NM_021072.4(HCN1):c.1783+4C>T	HCN1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1036565	NM_021072.4(HCN1):c.1778G>A (p.Arg593Gln)	HCN1 (R593Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 857604	NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly)	HCN1 (R593G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
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 1779590	NM_021072.4(HCN1):c.1761C>T (p.Ala587=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 461363	NM_021072.4(HCN1):c.1710C>T (p.Asn570=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 589995	NM_021072.4(HCN1):c.1696G>A (p.Val566Met)	HCN1 (V566M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 986134	NM_021072.4(HCN1):c.1678C>G (p.Arg560Gly)	HCN1 (R560G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776745	NM_021072.4(HCN1):c.1628T>G (p.Leu543Arg)	HCN1 (L543R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588309	NM_021072.4(HCN1):c.1626C>T (p.Cys542=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 502430	NM_021072.4(HCN1):c.1619-3T>C	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1776261	NM_021072.4(HCN1):c.1605C>T (p.Gly535=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589285	NM_021072.4(HCN1):c.1578C>A (p.Ser526=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1775088	NM_021072.4(HCN1):c.1552G>T (p.Gly518Cys)	HCN1 (G518C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 461360	NM_021072.4(HCN1):c.1521C>T (p.Ala507=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 1103662	NM_021072.4(HCN1):c.1497A>G (p.Gly499=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 2312675	NM_021072.4(HCN1):c.1449T>A (p.Phe483Leu)	HCN1 (F483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 833684	NM_021072.4(HCN1):c.1437G>A (p.Ala479=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588303	NM_021072.4(HCN1):c.1404A>G (p.Lys468=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588152	NM_021072.4(HCN1):c.1378-4T>C	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 520906	NM_021072.4(HCN1):c.1377+1G>A	HCN1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 1770989	NM_021072.4(HCN1):c.1369C>G (p.Leu457Val)	HCN1 (L457V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342976	NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln)	HCN1 (R405Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1457415	NM_021072.4(HCN1):c.1159G>T (p.Ala387Ser)	HCN1 (A387S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1732659	NM_021072.4(HCN1):c.1146G>A (p.Gly382=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 588618	NM_021072.4(HCN1):c.1143C>T (p.Val381=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 412775	NM_021072.4(HCN1):c.1041C>T (p.Tyr347=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1768579	NM_021072.4(HCN1):c.990G>A (p.Trp330Ter)	HCN1 (W330*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 1216781	NM_021072.4(HCN1):c.874G>A (p.Ala292Thr)	HCN1 (A292T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1208904	NM_021072.4(HCN1):c.808C>T (p.Arg270Ter)	HCN1 (R270*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 520907	NM_021072.4(HCN1):c.781A>G (p.Lys261Glu)	HCN1 (K261E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760114	NM_021072.4(HCN1):c.767T>C (p.Ile256Thr)	HCN1 (I256T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590181	NM_021072.4(HCN1):c.734C>T (p.Ser245Phe)	HCN1 (S245F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 412776	NM_021072.4(HCN1):c.726A>C (p.Gly242=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 589246	NM_021072.4(HCN1):c.685T>A (p.Ser229Thr)	HCN1 (S229T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305309	NM_021072.4(HCN1):c.643A>G (p.Met215Val)	HCN1 (M215V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1112424	NM_021072.4(HCN1):c.599A>G (p.Asn200Ser)	HCN1 (N200S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 1741776	NM_021072.4(HCN1):c.459G>T (p.Met153Ile)	HCN1 (M153I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 590015	NM_021072.4(HCN1):c.451A>G (p.Ile151Val)	HCN1 (I151V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1738411	NM_021072.4(HCN1):c.416G>A (p.Ser139Asn)	HCN1 (S139N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 699473	NM_021072.4(HCN1):c.369G>A (p.Glu123=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1610365	NM_021072.4(HCN1):c.360G>A (p.Val120=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 193443	NM_021072.4(HCN1):c.336C>A (p.Arg112=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1672873	NM_021072.4(HCN1):c.319A>G (p.Asn107Asp)	HCN1 (N107D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1728069	NM_021072.4(HCN1):c.313G>A (p.Gly105Arg)	HCN1 (G105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 285389	NM_021072.4(HCN1):c.270G>A (p.Gln90=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 530592	NM_021072.4(HCN1):c.261C>G (p.Pro87=)	HCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 461373	NM_021072.4(HCN1):c.259C>T (p.Pro87Ser)	HCN1 (P87S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 593590	NM_021072.4(HCN1):c.240C>A (p.Gly80=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1789702	NM_021072.4(HCN1):c.232G>A (p.Ala78Thr)	HCN1 (A78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 461370	NM_021072.4(HCN1):c.203GCG[10] (p.Gly72_Gly74dup)	HCN1	Microsatellite (inframe_insertion)	not provided +3 more	GLikely benign
Select item 412769	NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)	HCN1	Microsatellite (inframe_insertion)	not provided +3 more	GConflicting classifications of pathogenicity
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 461368	NM_021072.4(HCN1):c.200_223del (p.Gly67_Gly74del)	HCN1	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
Select item 241373	NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)	HCN1	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 193441	NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)	HCN1	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 24 +4 more	GBenign/Likely benign
Select item 412768	NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup)	HCN1	Microsatellite (inframe_insertion)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 95999	NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del)	HCN1	Microsatellite (inframe_deletion)	not provided +3 more	GBenign
Select item 1785721	NM_021072.4(HCN1):c.208G>C (p.Gly70Arg)	HCN1 (G70R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 573431	NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup)	HCN1	Duplication (inframe_insertion)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 588630	NM_021072.4(HCN1):c.199G>C (p.Gly67Arg)	HCN1 (G67R)	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 864598	NM_021072.4(HCN1):c.181G>C (p.Val61Leu)	HCN1 (V61L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1779936	NM_021072.4(HCN1):c.177C>A (p.Phe59Leu)	HCN1 (F59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985240	NM_021072.4(HCN1):c.160G>C (p.Gly54Arg)	HCN1 (G54R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 697886	NM_021072.4(HCN1):c.159C>T (p.His53=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 404099	NM_021072.4(HCN1):c.159C>G (p.His53Gln)	HCN1 (H53Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1775653	NM_021072.4(HCN1):c.157C>T (p.His53Tyr)	HCN1 (H53Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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