610[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
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 3104498	NM_001194.4(HCN2):c.19G>A (p.Gly7Ser)	HCN2 (G7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2357092	NM_001194.4(HCN2):c.63GCC[8] (p.Pro28_Ala29insPro)	HCN2	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 1765791	NM_001194.4(HCN2):c.90C>T (p.Pro30=)	HCN2	Single nucleotide variant (synonymous 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 1769313	NM_001194.4(HCN2):c.129C>T (p.Pro43=)	HCN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1319281	NM_001194.4(HCN2):c.137G>C (p.Gly46Ala)	HCN2 (G46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291938	NM_001194.4(HCN2):c.227G>A (p.Arg76His)	HCN2 (R76H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3104505	NM_001194.4(HCN2):c.242C>G (p.Ser81Trp)	HCN2 (S81W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402922	NM_001194.4(HCN2):c.246C>T (p.Cys82=)	HCN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2232499	NM_001194.4(HCN2):c.274A>C (p.Ser92Arg)	HCN2 (S92R)	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 2490142	NM_001194.4(HCN2):c.301G>A (p.Glu101Lys)	HCN2 (E101K)	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 2637744	NM_001194.4(HCN2):c.371C>T (p.Ser124Leu)	HCN2 (S124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711457	NM_001194.4(HCN2):c.377C>G (p.Ser126Trp)	HCN2 (S126W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1240010	NM_001194.4(HCN2):c.377C>T (p.Ser126Leu)	HCN2 (S126L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 2	GPathogenic
Select item 1226483	NM_001194.4(HCN2):c.378G>T (p.Ser126=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2356652	NM_001194.4(HCN2):c.409G>C (p.Gly137Arg)	HCN2 (G137R)	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 2263178	NM_001194.4(HCN2):c.422C>T (p.Ala141Val)	HCN2 (A141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 392202	NM_001194.4(HCN2):c.433G>C (p.Gly145Arg)	HCN2 (G145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2671836	NM_001194.4(HCN2):c.449G>T (p.Gly150Val)	HCN2 (G150V)	Single nucleotide variant (missense variant)	Cardiomyopathy	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 2228004	NM_001194.4(HCN2):c.455C>T (p.Ala152Val)	HCN2 (A152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312219	NM_001194.4(HCN2):c.571C>T (p.Arg191Cys)	HCN2 (R191C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711725	NM_001194.4(HCN2):c.615C>A (p.His205Gln)	HCN2 (H205Q)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
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 3104509	NM_001194.4(HCN2):c.736G>C (p.Val246Leu)	HCN2 (V246L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1240012	NM_001194.4(HCN2):c.736G>A (p.Val246Met)	HCN2 (V246M)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 2	Grisk factor
Select item 3029168	NM_001194.4(HCN2):c.764T>G (p.Phe255Cys)	HCN2 (F255C)	Single nucleotide variant (missense variant)	HCN2-related disorder	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 2230156	NM_001194.4(HCN2):c.793A>T (p.Thr265Ser)	HCN2 (T265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1228724	NM_001194.4(HCN2):c.858T>C (p.Tyr286=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266553	NM_001194.4(HCN2):c.915C>T (p.Phe305=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268214	NM_001194.4(HCN2):c.921C>T (p.Ile307=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1277714	NM_001194.4(HCN2):c.963C>T (p.Arg321=)	HCN2, LOC129391015	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308206	NM_001194.4(HCN2):c.970C>T (p.Arg324Cys)	HCN2, LOC129391015 (R324C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1711726	NM_001194.4(HCN2):c.971G>A (p.Arg324His)	HCN2, LOC129391015 (R324H)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
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 2576004	NM_001194.4(HCN2):c.1087G>A (p.Ala363Thr)	HCN2 (A363T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711727	NM_001194.4(HCN2):c.1088C>T (p.Ala363Val)	HCN2 (A363V)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
Select item 1315002	NM_001194.4(HCN2):c.1106A>G (p.Asn369Ser)	HCN2 (N369S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 983136	NM_001194.4(HCN2):c.1120A>C (p.Met374Leu)	HCN2 (M374L)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 935120	NM_001194.4(HCN2):c.1130T>A (p.Leu377His)	HCN2 (L377H)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 739876	NM_001194.4(HCN2):c.1143C>T (p.Asp381=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241053	NM_001194.4(HCN2):c.1167T>C (p.Pro389=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3042740	NM_001194.4(HCN2):c.1171C>T (p.Leu391=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related disorder	GLikely benign
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 3056581	NM_001194.4(HCN2):c.1218+6C>T	HCN2	Single nucleotide variant (intron variant)	HCN2-related disorder	GBenign
Select item 1711728	NM_001194.4(HCN2):c.1226C>T (p.Ser409Leu)	HCN2 (S409L)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
Select item 1226607	NM_001194.4(HCN2):c.1239G>C (p.Leu413=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769444	NM_001194.4(HCN2):c.1239G>A (p.Leu413=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3047592	NM_001194.4(HCN2):c.1281C>T (p.Cys427=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related disorder	GLikely benign
Select item 1305785	NM_001194.4(HCN2):c.1286G>A (p.Gly429Glu)	HCN2 (G429E)	Single nucleotide variant (missense variant)	not provided	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 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 2648846	NM_001194.4(HCN2):c.1338C>T (p.Leu446=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related disorder +1 more	GLikely benign
Select item 1339851	NM_001194.4(HCN2):c.1348G>T (p.Val450Leu)	HCN2 (V450L)	Single nucleotide variant (missense variant)	Generalized epilepsy +1 more	Gnot provided
Select item 1326485	NM_001194.4(HCN2):c.1367C>T (p.Ala456Val)	HCN2 (A456V)	Single nucleotide variant (missense variant)	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 985643	NM_001194.4(HCN2):c.1384G>A (p.Ala462Thr)	HCN2 (A462T)	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 2648847	NM_001194.4(HCN2):c.1415C>T (p.Ser472Leu)	HCN2 (S472L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701054	NM_001194.4(HCN2):c.1417C>T (p.Arg473Trp)	HCN2 (R473W)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1184400	NM_001194.4(HCN2):c.1418G>A (p.Arg473Gln)	HCN2 (R473Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2490332	NM_001194.4(HCN2):c.1420C>T (p.Arg474Cys)	HCN2 (R474C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1315325	NM_001194.4(HCN2):c.1432_1434del (p.Glu478del)	HCN2 (E478del)	Deletion (inframe_deletion)	HCN2 related developmental and epileptic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 1183110	NM_001194.4(HCN2):c.1438-16C>G	HCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266604	NM_001194.4(HCN2):c.1452G>A (p.Glu484=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1711729	NM_001194.4(HCN2):c.1478C>T (p.Pro493Leu)	HCN2 (P493L)	Single nucleotide variant (missense variant)	HCN2 related developmental and epileptic encephalopathy	GPathogenic
Select item 3040381	NM_001194.4(HCN2):c.1503C>T (p.His501=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related disorder	GLikely benign
Select item 1311850	NM_001194.4(HCN2):c.1504G>A (p.Asp502Asn)	HCN2 (D502N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630572	NM_001194.4(HCN2):c.1533G>C (p.Lys511Asn)	HCN2 (K511N)	Single nucleotide variant (missense variant)	HCN2-related disorder	GUncertain significance
Select item 2630524	NM_001194.4(HCN2):c.1543G>T (p.Glu515Ter)	HCN2 (E515*)	Single nucleotide variant (nonsense)	HCN2-related disorder	GUncertain significance
Select item 1240013	NM_001194.4(HCN2):c.1543G>A (p.Glu515Lys)	HCN2	Single nucleotide variant (missense variant)	Febrile seizures, familial, 2	Grisk factor
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 3046412	NM_001194.4(HCN2):c.1569C>T (p.Asn523=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related disorder	GLikely benign
Select item 450172	NM_001194.4(HCN2):c.1571G>A (p.Gly524Glu)	HCN2 (G524E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 744932	NM_001194.4(HCN2):c.1572G>A (p.Gly524=)	HCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 402923	NM_001194.4(HCN2):c.1584+7C>T	HCN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 423436	NM_001194.4(HCN2):c.1628C>T (p.Pro543Leu)	HCN2 (P543L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3104497	NM_001194.4(HCN2):c.1636G>C (p.Ala546Pro)	HCN2 (A546P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035653	NM_001194.4(HCN2):c.1638C>T (p.Ala546=)	HCN2	Single nucleotide variant (synonymous variant)	HCN2-related disorder	GLikely benign
Select item 2576595	NM_001194.4(HCN2):c.1641del (p.Asn547fs)	HCN2 (N547fs)	Deletion (frameshift variant)	Febrile seizures, familial, 2	GUncertain significance

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