ClinVar for MedGen (Select 482821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377217	NM_001330260.2(SCN8A):c.4674C>A (p.Asn1558Lys)	SCN8A (N1517K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3367061	NM_001330260.2(SCN8A):c.2256C>A (p.Asp752Glu)	SCN8A (D752E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3359076	NM_001330260.2(SCN8A):c.4963G>A (p.Gly1655Ser)	SCN8A (G1614S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3359013	NM_001330260.2(SCN8A):c.2857T>C (p.Cys953Arg)	SCN8A (C953R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3359005	NM_001330260.2(SCN8A):c.3312_3372+4dup	SCN8A	Duplication (splice donor variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3254875	NM_001330260.2(SCN8A):c.5282A>G (p.Tyr1761Cys)	SCN8A (Y1720C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 3238817	NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)	SCN8A (M1481K +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 3238793	NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)	SCN8A (R226P)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 3236815	NM_001330260.2(SCN8A):c.4789A>G (p.Ile1597Val)	SCN8A (I1556V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3236007	NM_001330260.2(SCN8A):c.3536G>A (p.Gly1179Glu)	SCN8A (G1179E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3066078	NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)	SCN8A (C324S)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
Select item 3063993	NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)	SCN8A (L882fs)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 3063576	NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)	SCN8A (D836V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3024271	NC_000012.11:g.52199766_52388207del	ACVR1B, ACVRL1 +3 more	Deletion	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 2850924	NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)	SCN8A (V892L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2739439	NM_001330260.2(SCN8A):c.368G>A (p.Arg123Lys)	SCN8A (R123K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 2687633	NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)	SCN8A (A874V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 2584848	NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)	SCN8A (N1109K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 2582519	NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)	SCN8A (S979N)	Indel (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 2582310	NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)	SCN8A (S1320C +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GUncertain significance
Select item 2580849	NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)	SCN8A (H559R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2578022	NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)	SCN8A (A413D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 2576971	NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)	SCN8A (Q246R)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GLikely pathogenic
Select item 2500085	NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)	SCN8A (G1873S +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 2442998	NM_001330260.2(SCN8A):c.3942+248C>G	SCN8A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 2441961	NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)	SCN8A (F1728L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GUncertain significance
Select item 2129007	NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)	SCN8A (D756N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GPathogenic/Likely pathogenic
Select item 2065356	NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser)	SCN8A (T1360S +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1895463	NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)	SCN8A (R223T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1878660	NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)	SCN8A (D1035N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 1805211	NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)	SCN8A (I1655S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1804159	NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)	SCN8A (M1488I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1804044	NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)	SCN8A (V282fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803068	NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)	SCN8A (M1451T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1803067	NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)	SCN8A (I1583S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803066	NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)	SCN8A (F260V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803064	NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)	SCN8A (S978R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1713187	NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)	SCN8A (S487T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1705682	NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)	SCN8A (T258A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1699202	NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr)	SCN8A (C324Y)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GPathogenic/Likely pathogenic
Select item 1699087	NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe)	SCN8A (L1193F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1696571	NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)	SCN8A (D1082V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +2 more	GUncertain significance
Select item 1687579	NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala)	SCN8A (V1358A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1679749	NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)	SCN8A (L422M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 1493587	NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr)	SCN8A (A1593T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 1490281	NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe)	SCN8A (L1407F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GConflicting classifications of pathogenicity
Select item 1472032	NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser)	SCN8A (A1323S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GPathogenic/Likely pathogenic
Select item 1406186	NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)	SCN8A (P474S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GUncertain significance
Select item 1399415	NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly)	SCN8A (V211G)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1371411	NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)	SCN8A (A1046T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GUncertain significance
Select item 1342357	NC_000015.10:g.51681311_51791472dup	LOC121530581, LOC130057054 +13 more	Duplication	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1342316	NM_001330260.2(SCN8A):c.2901+2T>C	SCN8A	Single nucleotide variant (splice donor variant)	Seizures, benign familial infantile, 5 +1 more	GPathogenic
Select item 1341785	NM_001330260.2(SCN8A):c.3820-1G>T	SCN8A	Single nucleotide variant (splice acceptor variant +1 more)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
Select item 1339139	NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His)	SCN8A (Q1020H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 1338766	NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly)	SCN8A (V254G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1334502	NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter)	SCN8A (W942*)	Insertion (nonsense)	Seizures, benign familial infantile, 5 +2 more	GLikely pathogenic
Select item 1321289	NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser)	SCN8A (G349S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1320078	NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp)	SCN8A (A1609D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1320055	NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro)	SCN8A (L1291P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GPathogenic/Likely pathogenic
Select item 1317639	NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr)	SCN8A (S702T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299601	NM_001330260.2(SCN8A):c.1162A>G (p.Met388Val)	SCN8A (M388V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1299336	NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)	SCN8A (E903fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 13	GPathogenic/Likely pathogenic
Select item 1297013	NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter)	SCN8A (G1304* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1285486	NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe)	SCN8A (I240F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GLikely pathogenic
Select item 1285460	NM_001330260.2(SCN8A):c.2901+1G>C	SCN8A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1250894	NM_001330260.2(SCN8A):c.2371-32A>C	SCN8A	Single nucleotide variant (intron variant)	Myoclonus, familial, 2 +5 more	GBenign
Select item 1221685	NM_001330260.2(SCN8A):c.4796-38C>A	SCN8A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1176944	NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)	SCN8A (G1050A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 1174109	NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr)	SCN8A (A1381T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1169384	NM_001330260.2(SCN8A):c.2545-7dup	SCN8A	Duplication (intron variant)	Cognitive impairment with or without cerebellar ataxia +6 more	GBenign
Select item 1164029	NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs)	SCN8A (Y1314fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 1068482	NM_001330260.2(SCN8A):c.3943G>A (p.Val1315Met)	SCN8A (V1274M +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1048639	NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys)	SCN8A (Y1402C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1039121	NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)	SCN8A (E466K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1036857	NM_001330260.2(SCN8A):c.3942+2_3942+5dup	SCN8A	Duplication (splice donor variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1031807	NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg)	SCN8A (L1725R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1031805	NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu)	SCN8A (D1112E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031804	NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=)	SCN8A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1029253	NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg)	SCN8A (Q1429R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1016014	NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)	SCN8A (N995K)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +4 more	GConflicting classifications of pathogenicity
Select item 996298	NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys)	SCN8A (Y617C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 989260	NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr)	SCN8A (I1295T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 982944	NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)	SCN8A (Y901C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 982943	NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe)	SCN8A (L840F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 976416	NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr)	SCN8A (D989Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 976359	NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln)	SCN8A (H1890Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 976357	NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg)	SCN8A (C1044R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 976197	NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu)	SCN8A (R1576L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GPathogenic/Likely pathogenic
Select item 975895	NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn)	SCN8A (D1052N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 975769	NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro)	SCN8A (L878P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 973303	NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly)	SCN8A (D1737G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 947359	NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe)	SCN8A (L1615F +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 942029	NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)	SCN8A (V1195M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 931859	NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)	SCN8A (D1642N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 931684	NM_001330260.2(SCN8A):c.197C>A (p.Pro66His)	LOC114803470, SCN8A (P66H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 930337	NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)	SCN8A (G873C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 870607	NM_014191.4(SCN8A):c.697G>T (p.Val233Leu)	SCN8A (V233L)	Single nucleotide variant (missense variant +1 more)	Focal clonic seizure +1 more	GConflicting classifications of pathogenicity
Select item 870201	NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile)	SCN8A (V750I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 870200	NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla)	SCN8A	Indel (missense variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 870199	NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln)	LOC114803470, SCN8A (K54Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance

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