ClinVar Miner

List of variants reported as likely pathogenic for Early infantile epileptic encephalopathy with suppression bursts

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 548
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700 0.00002
NM_006279.5(ST3GAL3):c.166+1G>A rs148531289 0.00002
NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val) rs759121197 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu) rs767045134 0.00001
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) rs748816300 0.00001
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg) rs1248613652 0.00001
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) rs121918738 0.00001
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His) rs922514173 0.00001
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr) rs1689707865 0.00001
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn) rs528239871 0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly) rs762927460 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) rs398123601 0.00001
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) rs1247507359 0.00001
NM_006030.4(CACNA2D2):c.2234+1G>A rs749539763 0.00001
NC_000001.10:g.(?_44257753)_(44365419_?)dup
NC_000001.10:g.(?_44360035)_(44482805_?)del
NC_000002.11:g.(?_166847976)_(166851014_?)del
NC_000009.12:g.(?_127672031)_(127676773_?)del
NC_000009.12:g.(?_127678411)_(127690877_?)del
NC_000020.10:g.(?_62050952)_(62078210_?)del
NC_000020.10:g.(?_62062673)_(62065276_?)dup
NC_000020.10:g.(?_62069958)_(62070093_?)del
NC_000020.10:g.(?_62069958)_(62078210_?)dup
NC_000020.11:g.(?_63406624)_(63407395_?)del
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp) rs1841611651
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly) rs886041337
NM_001032221.6(STXBP1):c.1110+1G>A
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.1250-2A>G
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
NM_001032221.6(STXBP1):c.1360-2A>C rs1057522982
NM_001032221.6(STXBP1):c.1360-2A>T rs1057522982
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser) rs1841869298
NM_001032221.6(STXBP1):c.1461+1G>A
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg) rs2131535795
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg) rs1842044505
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu) rs796053374
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg) rs1554776228
NM_001032221.6(STXBP1):c.218_246+22del rs2132460935
NM_001032221.6(STXBP1):c.325+2T>A rs1840976417
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg) rs2131454649
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro) rs1060501724
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
NM_001032221.6(STXBP1):c.863_865delinsTGG (p.Trp288_Ile289delinsLeuVal) rs2131481685
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met) rs1840653229
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu) rs1840653547
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)
NM_001130438.3(SPTAN1):c.1086-2A>C rs2131028639
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
NM_001130438.3(SPTAN1):c.1572+1G>T
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val) rs2131193011
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
NM_001130438.3(SPTAN1):c.3520-2A>G
NM_001130438.3(SPTAN1):c.363+1G>A rs1554737064
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys) rs2131744077
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val) rs2131965427
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg) rs1851359623
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup) rs1589393179
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del) rs1589416130
NM_001130438.3(SPTAN1):c.6959+1G>T
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001130438.3(SPTAN1):c.7161-2_7174del rs2132105386
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp) rs1553548096
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala) rs121918753
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)
NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser) rs2105867993
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) rs1553547528
NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr) rs1698007004
NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) rs1698003832
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala) rs1697999557
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro) rs1697998959
NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys) rs1697998080
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) rs746413385
NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr) rs794726725
NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del) rs2105862483
NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn) rs398123581
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val) rs1697904829
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)
NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr) rs1684680680
NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe) rs1697647054
NM_001165963.4(SCN1A):c.1662+3A>G rs794726773
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.1663-3_1663-2del
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly) rs1697479557
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup) rs1553560740
NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)
NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala)
NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile) rs2105827770
NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val) rs1697134047
NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) rs121918782
NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)
NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn) rs1696888691
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)
NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)
NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)
NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)
NM_001165963.4(SCN1A):c.2590-3_2601del
NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)
NM_001165963.4(SCN1A):c.264+1G>A
NM_001165963.4(SCN1A):c.264+1G>C rs1553560677
NM_001165963.4(SCN1A):c.264+3G>C rs746440689
NM_001165963.4(SCN1A):c.265-3C>G rs1553553614
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly) rs121918788
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) rs1696628056
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg) rs2105806431
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln) rs121918786
NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) rs878854262
NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp) rs1041924436
NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser) rs2105806212
NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)
NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile) rs1553541172
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly) rs1696618804
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp) rs922757507
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe) rs1553540503
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe) rs897883046
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys) rs1559195296
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu) rs2105918428
NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT rs2105611998
NM_001165963.4(SCN1A):c.3551-2A>T rs2105612020
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser) rs1559149128
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr) rs1692873873
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly) rs1692866593
NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val) rs2105609833
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe) rs2105609699
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys) rs750364705
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.383+5C>G rs1060502185
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala) rs1692543303
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val) rs121918801
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) rs1057521746
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr) rs121918803
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe) rs1691082638
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu) rs121918805
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro) rs2105509598
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val) rs865867764
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp) rs1553552378
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe) rs1699149959
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser) rs1559127505
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) rs1559249734
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val) rs373547836
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val) rs2105487145
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg) rs121917945
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His) rs1573984593
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu) rs1690331819
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu) rs2105462778
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4563_4581+39del rs1559114202
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys) rs2105449347
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys) rs796053024
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly) rs1573964264
NM_001165963.4(SCN1A):c.471_473+6del
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro) rs2105447944
NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn) rs1698961617
NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu) rs1689381070
NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu) rs2105435603
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg) rs1689350809
NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) rs1553520439
NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)
NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)
NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser) rs1064794766
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) rs121918765
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile) rs796053031
NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)
NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val) rs375651364
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro) rs2105433264
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp) rs2105432780
NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr) rs1689298888
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys) rs1689298277
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser) rs1689294239
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys) rs2105432013
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) rs1689280236
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) rs1553520318
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr) rs1689278461
NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg) rs1238612161
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His) rs796053035
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr) rs796053035
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr) rs528239871
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) rs1573948129
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro) rs2105429381
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) rs121918813
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del) rs2105428012
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu) rs1689211960
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) rs1553520029
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly) rs1689142827
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) rs1553519865
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly) rs1689136140
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.602+2dup rs796053054
NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val) rs1553551312
NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)
NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu) rs1574271827
NM_001165963.4(SCN1A):c.695-2A>G rs2105890879
NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu) rs2105890375
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg) rs1553549834
NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)
NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro) rs1698602170
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg) rs2105888708
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp) rs779184118
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr) rs2105874284
NM_001191061.2(SLC25A22):c.202+1G>A rs1287249801
NM_001191061.2(SLC25A22):c.568_587+6del rs2133700632
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg) rs2102063243
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) rs778291283
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp) rs1361083258
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr) rs2102499747
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe) rs2102689621
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn) rs2102689660
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg) rs1553345844
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly) rs2102795834
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro) rs1553286282
NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val) rs2138742488
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr) rs1941714399
NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu) rs1941714576
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His) rs2138748186
NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala) rs2138748239
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_001330260.2(SCN8A):c.276+1G>A
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe) rs774522197
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly) rs1592149906
NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val) rs2138868851
NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp) rs1430513260
NM_001330260.2(SCN8A):c.3942+1G>T rs2138892902
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu) rs1555228668
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn) rs1938178701
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn) rs1938702028
NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val) rs1938703803
NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)
NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser) rs879255709
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val) rs1938712937
NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu) rs1938721157
NM_001330260.2(SCN8A):c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg) rs2138944020
NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val) rs2138944124
NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile) rs1941650264
NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr) rs1941650760
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys) rs2138735794
NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)
NM_001330260.2(SCN8A):c.929-2A>G
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del) rs1473654961
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp) rs2131543392
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) rs1984233764
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_006030.4(CACNA2D2):c.1340-2A>G rs2106654236
NM_006030.4(CACNA2D2):c.1389+2T>C rs1575601202
NM_006030.4(CACNA2D2):c.1390-1G>C rs2106652662
NM_006030.4(CACNA2D2):c.1774-2A>G rs2106640384
NM_006030.4(CACNA2D2):c.1845+1G>T rs1704944478
NM_006030.4(CACNA2D2):c.2045+1G>A rs2109421369
NM_006030.4(CACNA2D2):c.206_206+34del rs2107204955
NM_006030.4(CACNA2D2):c.2234+1G>T
NM_006030.4(CACNA2D2):c.2402-2A>C rs1378156947
NM_006030.4(CACNA2D2):c.2637+1G>C
NM_006030.4(CACNA2D2):c.466-1G>C rs2106702374
NM_006030.4(CACNA2D2):c.784+1G>C rs1705277912
NM_006030.4(CACNA2D2):c.784+2T>G
NM_006030.4(CACNA2D2):c.842+1G>A rs1705258881
NM_006279.5(ST3GAL3):c.118+1G>A rs2154091891
NM_006279.5(ST3GAL3):c.167-2A>G
NM_006279.5(ST3GAL3):c.167-2A>T
NM_006279.5(ST3GAL3):c.210-1G>C
NM_006279.5(ST3GAL3):c.558-19_562del
NM_006279.5(ST3GAL3):c.891+1G>T rs2082857900
NM_006279.5(ST3GAL3):c.891+2T>G
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.615-2A>C rs1060504137
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del) rs2143705016
NM_020988.3(GNAO1):c.119-2_119-1del
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu) rs886041766
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) rs869312939
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg) rs2143272260
NM_020988.3(GNAO1):c.464+2T>C rs2143647375
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln) rs2037724743
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys) rs2036182701
NM_020988.3(GNAO1):c.593+1G>A
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn) rs758779535
NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)
NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr)
NM_021072.4(HCN1):c.1159G>C (p.Ala387Pro) rs2112040690
NM_021072.4(HCN1):c.881C>T (p.Ala294Val)
NM_021072.4(HCN1):c.908G>T (p.Gly303Val)
NM_130811.4(SNAP25):c.114+2T>G rs2123019421
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu) rs2123063802
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg) rs2123063830
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser) rs2123063984
NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg) rs2123120184
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro) rs2064035939
NM_130811.4(SNAP25):c.212T>C (p.Met71Thr) rs2123120544
NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr) rs2123159234
NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly) rs2123159261
NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter) rs2123159470
NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro) rs2123159524
NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr) rs2123205099
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) rs2064355563
NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly) rs2123205311
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val) rs2123205311
NM_130811.4(SNAP25):c.72+1G>A rs2123003858
NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly) rs2136944093
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys) rs1164997707
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1023+2T>C
NM_172107.4(KCNQ2):c.1024-2A>C rs1057516104
NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu) rs2080907267
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)
NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg) rs2145680143
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1301+2T>G
NM_172107.4(KCNQ2):c.1302-162_1511delinsA
NM_172107.4(KCNQ2):c.1302-1G>A
NM_172107.4(KCNQ2):c.1302-1G>T
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val) rs2145547478
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser) rs2080210194
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)
NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)
NM_172107.4(KCNQ2):c.1679G>C (p.Arg560Pro) rs1057517919
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp) rs796052654
NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu) rs1057516123
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1735C>G (p.Leu579Val)
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) rs2145541173
NM_172107.4(KCNQ2):c.1764-1G>A
NM_172107.4(KCNQ2):c.1887+2del
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.296+2T>C
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del) rs1064795435
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His) rs2081442073
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.387+1G>A
NM_172107.4(KCNQ2):c.387+2T>C rs2145789008
NM_172107.4(KCNQ2):c.388-1G>A rs6089914
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala) rs2145779552
NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)
NM_172107.4(KCNQ2):c.514+1G>A rs2145778708
NM_172107.4(KCNQ2):c.514+2T>C
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.516CAT[1] (p.Ile173del)
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe) rs1568940442
NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp) rs2145775614
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro) rs796052621
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val) rs1057524599
NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu) rs397514581
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val) rs2145774563
NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)
NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met) rs2081358317
NM_172107.4(KCNQ2):c.690+1G>A rs2145774426
NM_172107.4(KCNQ2):c.690+2_690+19del
NM_172107.4(KCNQ2):c.691-1G>A rs2145736858
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.704C>G (p.Ala235Gly)
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys) rs796052631
NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys) rs2081187047
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp) rs118192209
NM_172107.4(KCNQ2):c.816+2T>G
NM_172107.4(KCNQ2):c.817-1G>A rs2145719805
NM_172107.4(KCNQ2):c.817-2A>G
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn) rs1600755607
NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe) rs780872303
NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met) rs1272165811
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn) rs796052636
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu) rs1600755429
NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser) rs2081099858
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.4(KCNQ2):c.911T>G (p.Phe304Cys) rs1057516100
NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu) rs864321707
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile) rs2145712541
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr) rs2145712459
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del) rs1555546796

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.