ClinVar Miner

List of variants in gene SCN2A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 424
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 2q24.3(chr2:166094617-166246621)x3
NC_000002.12:g.165353926del
NM_001040142.2(SCN2A):c.*9C>A rs541483828
NM_001040142.2(SCN2A):c.-41T>C rs777439927
NM_001040142.2(SCN2A):c.-51-136C>T
NM_001040142.2(SCN2A):c.-51-1657G>T rs962697383
NM_001040142.2(SCN2A):c.-51-1658G>T rs796053109
NM_001040142.2(SCN2A):c.-51-61A>G
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His) rs796053175
NM_001040142.2(SCN2A):c.1027G>T (p.Asp343Tyr) rs796053175
NM_001040142.2(SCN2A):c.1028A>T (p.Asp343Val) rs1057524164
NM_001040142.2(SCN2A):c.1035-113C>T
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987
NM_001040142.2(SCN2A):c.1035-298T>A
NM_001040142.2(SCN2A):c.1035-57A>G
NM_001040142.2(SCN2A):c.1038G>A (p.Gln346=) rs1057522529
NM_001040142.2(SCN2A):c.1055T>C (p.Ile352Thr) rs796053176
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1108T>G (p.Phe370Val) rs796053177
NM_001040142.2(SCN2A):c.1137T>C (p.Arg379=) rs587781154
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) rs796053178
NM_001040142.2(SCN2A):c.1177-15T>G rs1398497493
NM_001040142.2(SCN2A):c.1177-16C>G rs553983883
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1200G>T (p.Thr400=) rs532681917
NM_001040142.2(SCN2A):c.1219C>T (p.Leu407=) rs587781155
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys) rs796053182
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly) rs796053183
NM_001040142.2(SCN2A):c.1300G>C (p.Ala434Pro) rs1553568999
NM_001040142.2(SCN2A):c.1304C>T (p.Thr435Ile) rs1064795159
NM_001040142.2(SCN2A):c.1306T>C (p.Leu436=) rs376323449
NM_001040142.2(SCN2A):c.1312G>A (p.Glu438Lys) rs796053184
NM_001040142.2(SCN2A):c.1351G>A (p.Glu451Lys) rs1057518350
NM_001040142.2(SCN2A):c.1364_1365delinsT (p.Lys455fs) rs1064796123
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.1383+189A>C
NM_001040142.2(SCN2A):c.1383+20G>A rs567354567
NM_001040142.2(SCN2A):c.1384-4C>G rs113191507
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536
NM_001040142.2(SCN2A):c.1389A>G (p.Ala463=) rs9333575
NM_001040142.2(SCN2A):c.1397C>T (p.Ala466Val) rs796053185
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_001040142.2(SCN2A):c.1530G>T (p.Gln510His) rs796053204
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546
NM_001040142.2(SCN2A):c.1558A>T (p.Asn520Tyr) rs746957483
NM_001040142.2(SCN2A):c.1577C>T (p.Ser526Leu) rs749504084
NM_001040142.2(SCN2A):c.1599A>G (p.Arg533=) rs1553569785
NM_001040142.2(SCN2A):c.1613G>A (p.Arg538His) rs761203730
NM_001040142.2(SCN2A):c.1649del (p.Lys550fs) rs886039710
NM_001040142.2(SCN2A):c.1671+45A>T
NM_001040142.2(SCN2A):c.1671+64T>C
NM_001040142.2(SCN2A):c.1672-309C>A
NM_001040142.2(SCN2A):c.1672-7T>C rs1553571855
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.1729C>A (p.Leu577Ile) rs796053187
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter) rs1553571901
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498
NM_001040142.2(SCN2A):c.177A>C (p.Gly59=) rs796053110
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=) rs1057522258
NM_001040142.2(SCN2A):c.1835T>C (p.Phe612Ser) rs796053188
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=)
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met) rs769069833
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu) rs143734912
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1846A>G (p.Arg616Gly) rs772896106
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.1866C>T (p.His622=) rs377388875
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro) rs558887330
NM_001040142.2(SCN2A):c.1938C>T (p.Ser646=) rs528391611
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312
NM_001040142.2(SCN2A):c.1953T>C (p.Asn651=) rs199722574
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197
NM_001040142.2(SCN2A):c.1972G>T (p.Gly658Trp) rs767183298
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771
NM_001040142.2(SCN2A):c.2016+120G>A
NM_001040142.2(SCN2A):c.2016+337T>A
NM_001040142.2(SCN2A):c.2017-148G>T
NM_001040142.2(SCN2A):c.2017-89A>G
NM_001040142.2(SCN2A):c.2017-9T>C rs1451143110
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156
NM_001040142.2(SCN2A):c.2023A>G (p.Thr675Ala) rs371601218
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile) rs796053190
NM_001040142.2(SCN2A):c.2079T>C (p.Asp693=) rs1553573107
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574
NM_001040142.2(SCN2A):c.2149+136C>T
NM_001040142.2(SCN2A):c.2149+19G>A rs188453890
NM_001040142.2(SCN2A):c.2149+5G>A rs773024189
NM_001040142.2(SCN2A):c.2149+83C>T
NM_001040142.2(SCN2A):c.2149+8A>G rs199897920
NM_001040142.2(SCN2A):c.2150-10T>G rs1057523367
NM_001040142.2(SCN2A):c.2150-205T>G
NM_001040142.2(SCN2A):c.2150-236A>G
NM_001040142.2(SCN2A):c.2150-306T>C
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.2236T>G (p.Leu746Val) rs772195737
NM_001040142.2(SCN2A):c.2251C>T (p.Leu751Phe) rs1085307603
NM_001040142.2(SCN2A):c.2275C>A (p.Pro759Thr) rs1553574652
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=) rs764479273
NM_001040142.2(SCN2A):c.2352G>A (p.Thr784=) rs369101059
NM_001040142.2(SCN2A):c.2354del (p.Glu785fs) rs1553574729
NM_001040142.2(SCN2A):c.2386C>T (p.Leu796=)
NM_001040142.2(SCN2A):c.2388+126G>A
NM_001040142.2(SCN2A):c.2388+12T>C rs749226972
NM_001040142.2(SCN2A):c.2388+6C>A
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969
NM_001040142.2(SCN2A):c.2389-18A>C rs376273827
NM_001040142.2(SCN2A):c.2389-280A>G
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956
NM_001040142.2(SCN2A):c.23C>T (p.Pro8Leu) rs747139785
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.2518T>C (p.Leu840=) rs768817318
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769
NM_001040142.2(SCN2A):c.2541A>T (p.Ser847=) rs776618474
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2562+1G>T rs796053113
NM_001040142.2(SCN2A):c.2562+305T>A
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441
NM_001040142.2(SCN2A):c.2563-184A>G
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2604T>G (p.Asn868Lys) rs796053114
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs) rs1064793850
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
NM_001040142.2(SCN2A):c.2637G>C (p.Gly879=) rs1490972796
NM_001040142.2(SCN2A):c.2642T>A (p.Leu881Gln) rs796053116
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.267+292C>T
NM_001040142.2(SCN2A):c.267+51G>A
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.268-19G>A rs898178511
NM_001040142.2(SCN2A):c.268-266T>C
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser) rs796053120
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2701C>G (p.Gln901Glu) rs1131691466
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273
NM_001040142.2(SCN2A):c.270G>A (p.Thr90=) rs776081713
NM_001040142.2(SCN2A):c.2715G>C (p.Lys905Asn) rs796053119
NM_001040142.2(SCN2A):c.2722A>G (p.Lys908Glu) rs796053122
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.2757A>G (p.Glu919=) rs1057520595
NM_001040142.2(SCN2A):c.2760C>T (p.Leu920=) rs1057523075
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg) rs1057524573
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2792C>A (p.Ser931Tyr) rs1085307541
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2823dup (p.Glu942fs) rs1553579500
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593
NM_001040142.2(SCN2A):c.2875T>C (p.Cys959Arg) rs1057523696
NM_001040142.2(SCN2A):c.2919+16A>G rs1343240110
NM_001040142.2(SCN2A):c.2919+8G>A rs552318566
NM_001040142.2(SCN2A):c.2942dup (p.Leu981fs) rs1553583550
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.2962T>C (p.Ser988Pro) rs796053125
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=) rs758652224
NM_001040142.2(SCN2A):c.3023G>A (p.Gly1008Glu) rs1131691300
NM_001040142.2(SCN2A):c.305G>A (p.Arg102Gln) rs1064795576
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352
NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter) rs1553584053
NM_001040142.2(SCN2A):c.3251A>G (p.Lys1084Arg) rs1445312692
NM_001040142.2(SCN2A):c.3255T>C (p.Tyr1085=) rs1057521230
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met) rs765278777
NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=) rs138143967
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs) rs1064796203
NM_001040142.2(SCN2A):c.3399+14A>C rs376371059
NM_001040142.2(SCN2A):c.3400-344A>G
NM_001040142.2(SCN2A):c.3400-71C>T
NM_001040142.2(SCN2A):c.3401del (p.Lys1134fs) rs796053192
NM_001040142.2(SCN2A):c.3434C>T (p.Thr1145Met) rs796053128
NM_001040142.2(SCN2A):c.3435G>A (p.Thr1145=) rs1345931602
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) rs201124054
NM_001040142.2(SCN2A):c.3520+11C>T rs187452739
NM_001040142.2(SCN2A):c.3520+327A>C
NM_001040142.2(SCN2A):c.3521-12C>T rs370419172
NM_001040142.2(SCN2A):c.3550A>G (p.Ile1184Val) rs1553590122
NM_001040142.2(SCN2A):c.3577_3578CT[1] (p.Trp1194fs) rs1553590192
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_001040142.2(SCN2A):c.3586A>G (p.Asn1196Asp) rs796053199
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3643G>T (p.Val1215Phe) rs1064795832
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020
NM_001040142.2(SCN2A):c.3675+166G>A
NM_001040142.2(SCN2A):c.3675+19A>G rs142439830
NM_001040142.2(SCN2A):c.3675+224A>C
NM_001040142.2(SCN2A):c.3675+294G>C
NM_001040142.2(SCN2A):c.3675+9T>C
NM_001040142.2(SCN2A):c.3676-20T>C rs1057522535
NM_001040142.2(SCN2A):c.3676-278G>C
NM_001040142.2(SCN2A):c.3702G>A (p.Gln1234=) rs1198199936
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500
NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe) rs1553591763
NM_001040142.2(SCN2A):c.3849+169A>G
NM_001040142.2(SCN2A):c.3849+241T>G
NM_001040142.2(SCN2A):c.3849+298A>G
NM_001040142.2(SCN2A):c.3850-226C>T
NM_001040142.2(SCN2A):c.3850-231G>A
NM_001040142.2(SCN2A):c.3850-339A>G
NM_001040142.2(SCN2A):c.3850-40T>C
NM_001040142.2(SCN2A):c.3850-92C>T
NM_001040142.2(SCN2A):c.3852C>T (p.Val1284=) rs1057521569
NM_001040142.2(SCN2A):c.386+17C>T rs201918346
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.387-2A>G rs796053169
NM_001040142.2(SCN2A):c.3892G>T (p.Glu1298Ter) rs1553593030
NM_001040142.2(SCN2A):c.3921A>G (p.Thr1307=)
NM_001040142.2(SCN2A):c.3939A>G (p.Pro1313=) rs1553593075
NM_001040142.2(SCN2A):c.3944G>A (p.Arg1315Lys) rs796053129
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) rs121917753
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.3964G>A (p.Gly1322Arg) rs1057521223
NM_001040142.2(SCN2A):c.3971G>A (p.Arg1324Lys) rs761654525
NM_001040142.2(SCN2A):c.3972+73T>A
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=) rs1057518117
NM_001040142.2(SCN2A):c.3972G>C (p.Arg1324Ser) rs1057518117
NM_001040142.2(SCN2A):c.3972G>T (p.Arg1324Ser) rs1057518117
NM_001040142.2(SCN2A):c.3973-268G>A
NM_001040142.2(SCN2A):c.3977T>A (p.Val1326Asp) rs796053131
NM_001040142.2(SCN2A):c.3985G>T (p.Ala1329Ser) rs1057524059
NM_001040142.2(SCN2A):c.3986C>A (p.Ala1329Asp) rs1553593578
NM_001040142.2(SCN2A):c.3995G>C (p.Gly1332Ala) rs1553593589
NM_001040142.2(SCN2A):c.3997G>A (p.Ala1333Thr) rs796053132
NM_001040142.2(SCN2A):c.4001T>C (p.Ile1334Thr) rs886039461
NM_001040142.2(SCN2A):c.4013T>G (p.Met1338Arg) rs796053133
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val) rs796053135
NM_001040142.2(SCN2A):c.4045C>T (p.Leu1349=) rs946393942
NM_001040142.2(SCN2A):c.4059C>G (p.Ile1353Met) rs796053136
NM_001040142.2(SCN2A):c.4061T>C (p.Met1354Thr) rs1553593676
NM_001040142.2(SCN2A):c.4110C>T (p.Thr1370=) rs148868382
NM_001040142.2(SCN2A):c.4121T>A (p.Met1374Lys) rs555250264
NM_001040142.2(SCN2A):c.4129G>T (p.Val1377Leu) rs1407740477
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met) rs779140322
NM_001040142.2(SCN2A):c.4157G>A (p.Cys1386Tyr) rs1057523734
NM_001040142.2(SCN2A):c.4169T>C (p.Ile1390Thr) rs758703434
NM_001040142.2(SCN2A):c.4221C>T (p.Asn1407=) rs747792907
NM_001040142.2(SCN2A):c.4254+158A>G
NM_001040142.2(SCN2A):c.4254+233A>G
NM_001040142.2(SCN2A):c.4255-31A>G
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302
NM_001040142.2(SCN2A):c.425del (p.Asn142fs) rs796053196
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4267G>T (p.Gly1423Ter) rs1553461660
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_001040142.2(SCN2A):c.4303C>G (p.Arg1435Gly) rs796053138
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4308+1G>A rs886039648
NM_001040142.2(SCN2A):c.4308+205A>G
NM_001040142.2(SCN2A):c.4308+282T>C
NM_001040142.2(SCN2A):c.4309-10T>C rs1057522929
NM_001040142.2(SCN2A):c.4309-231del
NM_001040142.2(SCN2A):c.4321C>T (p.Pro1441Ser) rs796053141
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4349A>G (p.Tyr1450Cys) rs1131691951
NM_001040142.2(SCN2A):c.4369A>G (p.Ile1457Val) rs796053142
NM_001040142.2(SCN2A):c.4369_4371ATT[1] (p.Ile1458del) rs796053193
NM_001040142.2(SCN2A):c.4371dup (p.Ile1458fs) rs1131691361
NM_001040142.2(SCN2A):c.4394T>G (p.Leu1465Trp) rs796053143
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr) rs1085307898
NM_001040142.2(SCN2A):c.4446+9A>G rs796053140
NM_001040142.2(SCN2A):c.4447-6C>T rs1173151782
NM_001040142.2(SCN2A):c.4461C>T (p.Asp1487=) rs1553462203
NM_001040142.2(SCN2A):c.4463T>A (p.Ile1488Asn) rs796053144
NM_001040142.2(SCN2A):c.4474_4476GAA[1] (p.Glu1493del) rs796053194
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer) rs1553462224
NM_001040142.2(SCN2A):c.4517C>A (p.Ser1506Ter) rs1287017958
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4551+318del
NM_001040142.2(SCN2A):c.4551+327T>C
NM_001040142.2(SCN2A):c.4552-14A>G rs775130301
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) rs1553463032
NM_001040142.2(SCN2A):c.4607G>A (p.Ser1536Asn) rs1044510361
NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) rs796053195
NM_001040142.2(SCN2A):c.4612A>G (p.Met1538Val) rs796053147
NM_001040142.2(SCN2A):c.4630A>G (p.Asn1544Asp) rs796053149
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val) rs796053150
NM_001040142.2(SCN2A):c.4661A>G (p.Asp1554Gly) rs796053200
NM_001040142.2(SCN2A):c.4683C>G (p.Asn1561Lys) rs1379550929
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.4691_4692del (p.Tyr1564fs) rs1553463074
NM_001040142.2(SCN2A):c.4701T>A (p.Asn1567Lys) rs796053151
NM_001040142.2(SCN2A):c.4718T>C (p.Leu1573Pro) rs796053152
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4748T>C (p.Ile1583Thr) rs367566833
NM_001040142.2(SCN2A):c.477-289G>A
NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg) rs886041259
NM_001040142.2(SCN2A):c.4780T>C (p.Trp1594Arg) rs1057518111
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.4822G>A (p.Gly1608Arg) rs796053154
NM_001040142.2(SCN2A):c.4823-15G>T rs375524288
NM_001040142.2(SCN2A):c.4854T>C (p.Tyr1618=) rs770349641
NM_001040142.2(SCN2A):c.4856T>C (p.Phe1619Ser) rs1085307542
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991
NM_001040142.2(SCN2A):c.4861T>C (p.Ser1621Pro) rs1057517853
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4895G>A (p.Arg1632Lys) rs796053158
NM_001040142.2(SCN2A):c.489A>G (p.Thr163=) rs1057520898
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter) rs1064794730
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met) rs796053160
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198
NM_001040142.2(SCN2A):c.4915C>T (p.Leu1639=) rs796053108
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.4964T>C (p.Met1655Thr) rs1064794721
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_001040142.2(SCN2A):c.5003del (p.Phe1668fs) rs1064796620
NM_001040142.2(SCN2A):c.5064A>T (p.Glu1688Asp) rs1064793261
NM_001040142.2(SCN2A):c.5065G>C (p.Val1689Leu) rs796053161
NM_001040142.2(SCN2A):c.5119C>T (p.Leu1707=) rs2227897
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535
NM_001040142.2(SCN2A):c.5127A>G (p.Gln1709=) rs938025387
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_001040142.2(SCN2A):c.5166T>C (p.Pro1722=) rs760587370
NM_001040142.2(SCN2A):c.517A>T (p.Lys173Ter) rs1553567304
NM_001040142.2(SCN2A):c.5217A>C (p.Gly1739=) rs2227899
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155
NM_001040142.2(SCN2A):c.5339G>A (p.Ser1780Asn) rs796053163
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_001040142.2(SCN2A):c.5388G>A (p.Glu1796=) rs587781153
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.539G>A (p.Cys180Tyr) rs1064796281
NM_001040142.2(SCN2A):c.5434T>A (p.Phe1812Ile) rs796053164
NM_001040142.2(SCN2A):c.543A>C (p.Leu181Phe) rs796053170
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_001040142.2(SCN2A):c.5465C>T (p.Ala1822Val) rs757542048
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_001040142.2(SCN2A):c.5493A>G (p.Ile1831Met) rs1553463680
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924
NM_001040142.2(SCN2A):c.5514G>C (p.Gln1838His) rs547095921
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.554C>T (p.Thr185Ile) rs1553567347
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.5645G>T (p.Arg1882Leu) rs794727444
NM_001040142.2(SCN2A):c.5697G>A (p.Thr1899=) rs746574956
NM_001040142.2(SCN2A):c.5705G>A (p.Arg1902His) rs747710683
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984
NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=) rs780514937
NM_001040142.2(SCN2A):c.5819G>T (p.Cys1940Phe) rs755792692
NM_001040142.2(SCN2A):c.5843A>T (p.Asp1948Val) rs770684740
NM_001040142.2(SCN2A):c.5905A>G (p.Thr1969Ala) rs1553463915
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_001040142.2(SCN2A):c.605+13A>G rs1553567417
NM_001040142.2(SCN2A):c.605+15_605+16delinsTATT rs1553567419
NM_001040142.2(SCN2A):c.605+1G>T rs796053171
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.607T>G (p.Tyr203Asp) rs1553567515
NM_001040142.2(SCN2A):c.620T>G (p.Phe207Cys) rs1064796691
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro) rs1057517854
NM_001040142.2(SCN2A):c.643G>C (p.Ala215Pro) rs1131691927
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_001040142.2(SCN2A):c.672A>G (p.Ala224=) rs2228986
NM_001040142.2(SCN2A):c.681A>C (p.Thr227=) rs2228987
NM_001040142.2(SCN2A):c.698-161C>T
NM_001040142.2(SCN2A):c.698-20C>T rs748075978
NM_001040142.2(SCN2A):c.708del (p.Ile237fs) rs796053198
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr) rs1064795014
NM_001040142.2(SCN2A):c.718_719delinsTT (p.Ala240Phe) rs796053206
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) rs1553567864
NM_001040142.2(SCN2A):c.775C>A (p.Leu259Ile) rs1064795018
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.811A>G (p.Met271Val) rs1553567946
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) rs765714006
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102
NM_001040142.2(SCN2A):c.890A>G (p.Asn297Ser) rs796053174
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001040142.2(SCN2A):c.913_915ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.921C>G (p.Phe307Leu) rs1553568092
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667
NM_001040142.2(SCN2A):c.970+61T>A
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054
NM_021007.2(SCN2A):c.-51-16dupC rs1325277297

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.