ClinVar for Gene (Select 610) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066209	NM_001194.4(HCN2):c.2008C>T (p.Leu670Phe)	HCN2 (L670F)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3065943	NM_001194.4(HCN2):c.1937_1938insT (p.Met647fs)	HCN2 (M647fs)	Insertion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3065615	NM_001194.4(HCN2):c.1921G>T (p.Val641Leu)	HCN2 (V641L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3065211	NM_001194.4(HCN2):c.1625dup (p.Met542fs)	HCN2 (M542fs)	Duplication (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3056581	NM_001194.4(HCN2):c.1218+6C>T	HCN2	Single nucleotide variant (intron variant)	HCN2-related condition	GBenign
Select item 3047890	NM_001194.4(HCN2):c.1656C>T (p.Phe552=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related condition	GLikely benign
Select item 3047592	NM_001194.4(HCN2):c.1281C>T (p.Cys427=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related condition	GLikely benign
Select item 3046412	NM_001194.4(HCN2):c.1569C>T (p.Asn523=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related condition	GLikely benign
Select item 3043568	NM_001194.4(HCN2):c.1991-14_1991-3dup	HCN2	Duplication (intron variant)	HCN2-related condition	GLikely benign
Select item 3042740	NM_001194.4(HCN2):c.1171C>T (p.Leu391=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related condition	GLikely benign
Select item 3040381	NM_001194.4(HCN2):c.1503C>T (p.His501=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related condition	GLikely benign
Select item 3039468	NM_001194.4(HCN2):c.1989C>T (p.Ile663=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related condition	GLikely benign
Select item 3035653	NM_001194.4(HCN2):c.1638C>T (p.Ala546=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related condition	GLikely benign
Select item 3029655	NM_001194.4(HCN2):c.1916A>C (p.Asn639Thr)	HCN2 (N639T)	Single nucleotide variant (missense variant)	HCN2-related condition	GUncertain significance
Select item 3029168	NM_001194.4(HCN2):c.764T>G (p.Phe255Cys)	HCN2 (F255C)	Single nucleotide variant (missense variant)	HCN2-related condition	GUncertain significance
Select item 3024609	GRCh37/hg19 19p13.3(chr19:496500-590577)x3	BSG, CDC34 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3024081	NM_001194.4(HCN2):c.1379G>A (p.Gly460Asp)	HCN2 (G460D)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
Select item 3019960	NM_001194.4(HCN2):c.1990+24_1990+57dup	HCN2	Duplication (intron variant)	not provided	GBenign
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2671836	NM_001194.4(HCN2):c.449G>T (p.Gly150Val)	HCN2 (G150V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2671658	NM_001194.4(HCN2):c.1657G>A (p.Val553Ile)	HCN2 (V553I)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 2	GUncertain significance
Select item 2663047	NM_001194.4(HCN2):c.1561G>A (p.Glu521Lys)	HCN2 (E521K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662865	NM_001194.4(HCN2):c.2657C>G (p.Ser886Trp)	HCN2 (S886W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648847	NM_001194.4(HCN2):c.1415C>T (p.Ser472Leu)	HCN2 (S472L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648846	NM_001194.4(HCN2):c.1338C>T (p.Leu446=)	HCN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2637744	NM_001194.4(HCN2):c.371C>T (p.Ser124Leu)	HCN2 (S124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630572	NM_001194.4(HCN2):c.1533G>C (p.Lys511Asn)	HCN2 (K511N)	Single nucleotide variant (missense variant)	HCN2-related condition	GUncertain significance
Select item 2630524	NM_001194.4(HCN2):c.1543G>T (p.Glu515Ter)	HCN2 (E515*)	Single nucleotide variant (nonsense)	HCN2-related condition	GUncertain significance
Select item 2603234	NM_001194.4(HCN2):c.728C>T (p.Pro243Leu)	HCN2 (P243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595033	NM_001194.4(HCN2):c.2165A>C (p.Gln722Pro)	HCN2 (Q722P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2578550	NM_001194.4(HCN2):c.443A>T (p.Glu148Val)	HCN2 (E148V)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 2	GUncertain significance
Select item 2576611	NM_001194.4(HCN2):c.2433_2448del (p.Leu813fs)	HCN2 (L813fs)	Deletion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2576595	NM_001194.4(HCN2):c.1641del (p.Asn547fs)	HCN2 (N547fs)	Deletion (frameshift variant)	Febrile seizures, familial, 2	GUncertain significance
Select item 2576004	NM_001194.4(HCN2):c.1087G>A (p.Ala363Thr)	HCN2 (A363T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557012	NM_001194.4(HCN2):c.2150C>T (p.Pro717Leu)	HCN2 (P717L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2550632	NM_001194.4(HCN2):c.1745A>T (p.Tyr582Phe)	HCN2 (Y582F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547801	NM_001194.4(HCN2):c.2387G>T (p.Gly796Val)	HCN2 (G796V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536061	NM_001194.4(HCN2):c.2384A>G (p.Tyr795Cys)	HCN2 (Y795C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521350	NM_001194.4(HCN2):c.2623C>G (p.Leu875Val)	HCN2 (L875V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513352	NM_001194.4(HCN2):c.2359C>T (p.Pro787Ser)	HCN2 (P787S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505990	NM_001194.4(HCN2):c.790C>T (p.Arg264Cys)	HCN2 (R264C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499800	NM_001194.4(HCN2):c.2584G>A (p.Asp862Asn)	HCN2 (D862N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490332	NM_001194.4(HCN2):c.1420C>T (p.Arg474Cys)	HCN2 (R474C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2490142	NM_001194.4(HCN2):c.301G>A (p.Glu101Lys)	HCN2 (E101K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473332	NM_001194.4(HCN2):c.2318G>C (p.Gly773Ala)	HCN2 (G773A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465711	NM_001194.4(HCN2):c.2311T>C (p.Ser771Pro)	HCN2 (S771P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465710	NM_001194.4(HCN2):c.1215G>A (p.Met405Ile)	HCN2 (M405I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444686	NM_001194.4(HCN2):c.1400dup (p.Ser468fs)	HCN2 (S468fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2432390	NM_001194.4(HCN2):c.1336C>G (p.Leu446Val)	HCN2 (L446V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2432389	NM_001194.4(HCN2):c.2375C>A (p.Thr792Asn)	HCN2 (T792N)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2432387	NM_001194.4(HCN2):c.2144CGC[10] (p.Pro721_Gln722insProProPro)	HCN2	Microsatellite (inframe_insertion)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2432386	NM_001194.4(HCN2):c.2386G>T (p.Gly796Cys)	HCN2 (G796C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2432385	NM_001194.4(HCN2):c.17G>T (p.Gly6Val)	HCN2 (G6V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 17	GUncertain significance
Select item 2431846	NM_001194.4(HCN2):c.1682A>G (p.Lys561Arg)	HCN2 (K561R)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 2	GUncertain significance
Select item 2430960	NM_001194.4(HCN2):c.1421G>A (p.Arg474His)	HCN2 (R474H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430392	NM_001194.4(HCN2):c.1946G>C (p.Arg649Pro)	HCN2 (R649P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2405434	NM_001194.4(HCN2):c.2435G>A (p.Arg812His)	HCN2 (R812H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403943	NM_001194.4(HCN2):c.2240T>A (p.Val747Glu)	HCN2 (V747E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395421	NM_001194.4(HCN2):c.2588G>A (p.Arg863His)	HCN2 (R863H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394442	NM_001194.4(HCN2):c.382C>G (p.Arg128Gly)	HCN2 (R128G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391524	NM_001194.4(HCN2):c.2374A>T (p.Thr792Ser)	HCN2 (T792S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385939	NM_001194.4(HCN2):c.2162C>T (p.Pro721Leu)	HCN2 (P721L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2380165	NM_001194.4(HCN2):c.2348C>T (p.Ala783Val)	HCN2 (A783V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357092	NM_001194.4(HCN2):c.63GCC[8] (p.Pro28_Ala29insPro)	HCN2	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 2356919	NM_001194.4(HCN2):c.2363G>C (p.Arg788Pro)	HCN2 (R788P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356652	NM_001194.4(HCN2):c.409G>C (p.Gly137Arg)	HCN2 (G137R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352210	NM_001194.4(HCN2):c.2290G>A (p.Gly764Arg)	HCN2 (G764R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348408	NM_001194.4(HCN2):c.2417C>T (p.Pro806Leu)	HCN2 (P806L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2345731	NM_001194.4(HCN2):c.2224G>A (p.Val742Met)	HCN2 (V742M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343234	NM_001194.4(HCN2):c.421G>T (p.Ala141Ser)	HCN2 (A141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343084	NM_001194.4(HCN2):c.107C>T (p.Pro36Leu)	HCN2 (P36L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 2326418	NM_001194.4(HCN2):c.29C>G (p.Pro10Arg)	HCN2 (P10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313756	NM_001194.4(HCN2):c.2398G>A (p.Ala800Thr)	HCN2 (A800T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287238	NM_001194.4(HCN2):c.350C>G (p.Pro117Arg)	HCN2 (P117R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273437	NM_001194.4(HCN2):c.1855A>T (p.Thr619Ser)	HCN2 (T619S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263178	NM_001194.4(HCN2):c.422C>T (p.Ala141Val)	HCN2 (A141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2252798	NM_001194.4(HCN2):c.2381C>G (p.Pro794Arg)	HCN2 (P794R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249665	NM_001194.4(HCN2):c.449G>C (p.Gly150Ala)	HCN2 (G150A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248239	NM_001194.4(HCN2):c.2225T>C (p.Val742Ala)	HCN2 (V742A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244451	NM_001194.4(HCN2):c.2375C>G (p.Thr792Ser)	HCN2 (T792S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240882	NM_001194.4(HCN2):c.1750A>C (p.Ile584Leu)	HCN2 (I584L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232500	NM_001194.4(HCN2):c.277A>C (p.Thr93Pro)	HCN2 (T93P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232499	NM_001194.4(HCN2):c.274A>C (p.Ser92Arg)	HCN2 (S92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232498	NM_001194.4(HCN2):c.259A>C (p.Thr87Pro)	HCN2 (T87P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230156	NM_001194.4(HCN2):c.793A>T (p.Thr265Ser)	HCN2 (T265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228128	NM_001194.4(HCN2):c.1956C>A (p.Phe652Leu)	HCN2 (F652L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228004	NM_001194.4(HCN2):c.455C>T (p.Ala152Val)	HCN2 (A152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218551	NM_001194.4(HCN2):c.2159C>T (p.Pro720Leu)	HCN2 (P720L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216123	NM_001194.4(HCN2):c.2242G>C (p.Gly748Arg)	HCN2 (G748R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213103	NM_001194.4(HCN2):c.2330C>G (p.Pro777Arg)	HCN2 (P777R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204124	NM_001194.4(HCN2):c.2150C>A (p.Pro717Gln)	HCN2 (P717Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803354	NM_001194.4(HCN2):c.1291G>A (p.Gly431Ser)	HCN2 (G431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801945	NM_001194.4(HCN2):c.1001T>A (p.Leu334His)	HCN2, LOC129391015 (L334H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1789332	NM_001194.4(HCN2):c.2304C>G (p.Ala768=)	HCN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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