"GeneDx"[submitter] AND "HCN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 60261	GRCh38/hg38 5p12(chr5:45183939-45972894)x1	HCN1, LOC126807381 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1313491	NM_021072.4(HCN1):c.2537C>G (p.Ser846Trp)	HCN1 (S846W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452127	NM_021072.4(HCN1):c.2495G>A (p.Arg832Lys)	HCN1 (R832K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2662104	NM_021072.4(HCN1):c.2287C>T (p.Pro763Ser)	HCN1 (P763S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314059	NM_021072.4(HCN1):c.2284A>T (p.Thr762Ser)	HCN1 (T762S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 652161	NM_021072.4(HCN1):c.2216A>G (p.Gln739Arg)	HCN1 (Q739R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 198898	NM_021072.4(HCN1):c.2172C>T (p.Ala724=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 530509	NM_021072.4(HCN1):c.1980G>A (p.Met660Ile)	HCN1 (M660I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 662493	NM_021072.4(HCN1):c.1975C>T (p.Arg659Cys)	HCN1 (R659C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2501542	NM_021072.4(HCN1):c.1970C>T (p.Thr657Ile)	HCN1 (T657I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312056	NM_021072.4(HCN1):c.1897G>A (p.Val633Met)	HCN1 (V633M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580691	NM_021072.4(HCN1):c.1853A>G (p.Glu618Gly)	HCN1 (E618G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433753	NM_021072.4(HCN1):c.1834G>A (p.Gly612Ser)	HCN1 (G612S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1310453	NM_021072.4(HCN1):c.1816C>T (p.Gln606Ter)	HCN1 (Q606*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 167167	NM_021072.4(HCN1):c.1797A>G (p.Ser599=)	HCN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1321480	NM_021072.4(HCN1):c.1784-115T>G	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301123	NM_021072.4(HCN1):c.1783+88A>C	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198584	NM_021072.4(HCN1):c.1783+7dup	HCN1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 461365	NM_021072.4(HCN1):c.1783+4C>T	HCN1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1699892	NM_021072.4(HCN1):c.1775A>G (p.Asp592Gly)	HCN1 (D592G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309054	NM_021072.4(HCN1):c.1739G>A (p.Arg580Lys)	HCN1 (R580K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707089	NM_021072.4(HCN1):c.1690C>G (p.Leu564Val)	HCN1 (L564V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312411	NM_021072.4(HCN1):c.1660C>T (p.Arg554Ter)	HCN1 (R554*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 938199	NM_021072.4(HCN1):c.1655G>C (p.Ser552Thr)	HCN1 (S552T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 502430	NM_021072.4(HCN1):c.1619-3T>C	HCN1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1307502	NM_021072.4(HCN1):c.1619-6T>A	HCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1300355	NM_021072.4(HCN1):c.1619-210A>T	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293422	NM_021072.4(HCN1):c.1619-224dup	HCN1	Duplication (intron variant)	not provided	GBenign
Select item 1250831	NM_021072.4(HCN1):c.1619-211_1619-210insTA	HCN1	Insertion (intron variant)	not provided	GBenign
Select item 1300964	NM_021072.4(HCN1):c.1619-211T>A	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254043	NM_021072.4(HCN1):c.1619-211del	HCN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1291444	NM_021072.4(HCN1):c.1618+29A>G	HCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313468	NM_021072.4(HCN1):c.1600G>A (p.Asp534Asn)	HCN1 (D534N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412825	NM_021072.4(HCN1):c.1570A>T (p.Thr524Ser)	HCN1 (T524S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698099	NM_021072.4(HCN1):c.1552G>C (p.Gly518Arg)	HCN1 (G518R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052345	NM_021072.4(HCN1):c.1534dup (p.Met512fs)	HCN1 (M512fs)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 754429	NM_021072.4(HCN1):c.1510C>T (p.Arg504Ter)	HCN1 (R504*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1313798	NM_021072.4(HCN1):c.1493del (p.Pro498fs)	HCN1 (P498fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2430459	NM_021072.4(HCN1):c.1485del (p.Gln497fs)	HCN1 (Q497fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1308694	NM_021072.4(HCN1):c.1414A>T (p.Thr472Ser)	HCN1 (T472S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687675	NM_021072.4(HCN1):c.1399C>T (p.Arg467Trp)	HCN1 (R467W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300440	NM_021072.4(HCN1):c.1377+33A>G	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699526	NM_021072.4(HCN1):c.1338G>T (p.Glu446Asp)	HCN1 (E446D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302736	NM_021072.4(HCN1):c.1295A>T (p.His432Leu)	HCN1 (H432L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698306	NM_021072.4(HCN1):c.1250A>T (p.Tyr417Phe)	HCN1 (Y417F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430963	NM_021072.4(HCN1):c.1231-2A>G	HCN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1237826	NM_021072.4(HCN1):c.1231-100_1231-99del	HCN1	Deletion (intron variant)	not provided	GBenign
Select item 1226922	NM_021072.4(HCN1):c.1231-245A>G	HCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234323	NM_021072.4(HCN1):c.1230+94dup	HCN1	Duplication (intron variant)	not provided	GBenign
Select item 1242107	NM_021072.4(HCN1):c.1230+104A>G	HCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723114	NM_021072.4(HCN1):c.1214G>T (p.Arg405Leu)	HCN1 (R405L)	Single nucleotide variant (missense variant)	not provided	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 848402	NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr)	HCN1 (A395T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1698172	NM_021072.4(HCN1):c.1175A>G (p.His392Arg)	HCN1 (H392R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635189	NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser)	HCN1 (G391S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 1328701	NM_021072.4(HCN1):c.1148C>T (p.Ala383Val)	HCN1 (A383V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1302174	NM_021072.4(HCN1):c.1132A>T (p.Ser378Cys)	HCN1 (S378C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307953	NM_021072.4(HCN1):c.1094C>A (p.Ala365Asp)	HCN1 (A365D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800607	NM_021072.4(HCN1):c.1036T>C (p.Ser346Pro)	HCN1 (S346P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662338	NM_021072.4(HCN1):c.1031A>C (p.Gln344Pro)	HCN1 (Q344P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195027	NM_021072.4(HCN1):c.1012-14A>G	HCN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 1300443	NM_021072.4(HCN1):c.1012-37A>T	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241224	NM_021072.4(HCN1):c.1012-214A>G	HCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712221	NM_021072.4(HCN1):c.1011+1G>T	HCN1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 196504	NM_021072.4(HCN1):c.990G>C (p.Trp330Cys)	HCN1 (W330C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1703343	NM_021072.4(HCN1):c.948G>T (p.Gln316His)	HCN1 (Q316H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2574900	NM_021072.4(HCN1):c.897del (p.Phe299fs)	HCN1 (F299fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1216781	NM_021072.4(HCN1):c.874G>A (p.Ala292Thr)	HCN1 (A292T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300614	NM_021072.4(HCN1):c.850-286_850-285insTATA	HCN1	Insertion (intron variant)	not provided	GLikely benign
Select item 139573	NM_021072.4(HCN1):c.814T>C (p.Ser272Pro)	HCN1 (S272P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1208904	NM_021072.4(HCN1):c.808C>T (p.Arg270Ter)	HCN1 (R270*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1308805	NM_021072.4(HCN1):c.800G>A (p.Arg267His)	HCN1 (R267H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004454	NM_021072.4(HCN1):c.763C>T (p.Arg255Cys)	HCN1 (R255C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2444576	NM_021072.4(HCN1):c.747G>C (p.Lys249Asn)	HCN1 (K249N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430668	NM_021072.4(HCN1):c.707T>C (p.Phe236Ser)	HCN1 (F236S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661932	NM_021072.4(HCN1):c.704T>C (p.Ile235Thr)	HCN1 (I235T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303114	NM_021072.4(HCN1):c.680T>C (p.Ile227Thr)	HCN1 (I227T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311191	NM_021072.4(HCN1):c.662G>T (p.Trp221Leu)	HCN1 (W221L)	Single nucleotide variant (missense variant)	not provided	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 1306863	NM_021072.4(HCN1):c.635T>A (p.Val212Glu)	HCN1 (V212E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800686	NM_021072.4(HCN1):c.523T>C (p.Trp175Arg)	HCN1 (W175R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801116	NM_021072.4(HCN1):c.475A>T (p.Ile159Phe)	HCN1 (I159F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1293465	NM_021072.4(HCN1):c.426-128T>A	HCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151670	GRCh38/hg38 5p12(chr5:45678461-46086772)x3	HCN1, LOC126807382	Copy number gain	See cases	GLikely benign
Select item 1300960	NM_021072.4(HCN1):c.425+245G>C	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301116	NM_021072.4(HCN1):c.425+158C>T	HCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2446330	NM_021072.4(HCN1):c.403A>G (p.Ile135Val)	HCN1 (I135V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308971	NM_021072.4(HCN1):c.343G>T (p.Gly115Trp)	HCN1 (G115W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703379	NM_021072.4(HCN1):c.303G>C (p.Met101Ile)	HCN1 (M101I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443477	NM_021072.4(HCN1):c.296C>G (p.Thr99Ser)	HCN1 (T99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 661484	NM_021072.4(HCN1):c.274_294dup (p.Gly92_Phe98dup)	HCN1	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1878888	NM_021072.4(HCN1):c.289C>A (p.Gln97Lys)	HCN1 (Q97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302238	NM_021072.4(HCN1):c.273C>A (p.Tyr91Ter)	HCN1 (Y91*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 593590	NM_021072.4(HCN1):c.240C>A (p.Gly80=)	HCN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1005322	NM_021072.4(HCN1):c.203GCG[11] (p.Gly71_Gly74dup)	HCN1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance

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