ClinVar Miner

List of variants in gene SCN2A reported as likely pathogenic by GeneDx

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Total variants: 65
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HGVS dbSNP
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys) rs796053182
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.1312G>A (p.Glu438Lys) rs796053184
NM_001040142.2(SCN2A):c.1364_1365delinsT (p.Lys455fs) rs1064796123
NM_001040142.2(SCN2A):c.2604T>G (p.Asn868Lys) rs796053114
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
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.2695G>A (p.Gly899Ser) rs796053120
NM_001040142.2(SCN2A):c.2701C>G (p.Gln901Glu) rs1131691466
NM_001040142.2(SCN2A):c.2722A>G (p.Lys908Glu) rs796053122
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.2875T>C (p.Cys959Arg) rs1057523696
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.305G>A (p.Arg102Gln) rs1064795576
NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter) rs1553584053
NM_001040142.2(SCN2A):c.3434C>T (p.Thr1145Met) rs796053128
NM_001040142.2(SCN2A):c.3643G>T (p.Val1215Phe) rs1064795832
NM_001040142.2(SCN2A):c.3964G>A (p.Gly1322Arg) rs1057521223
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.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.4059C>G (p.Ile1353Met) rs796053136
NM_001040142.2(SCN2A):c.4061T>C (p.Met1354Thr) rs1553593676
NM_001040142.2(SCN2A):c.4157G>A (p.Cys1386Tyr) rs1057523734
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4369_4371ATT[1] (p.Ile1458del) rs796053193
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.4463T>A (p.Ile1488Asn) rs796053144
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.4701T>A (p.Asn1567Lys) rs796053151
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.4856T>C (p.Phe1619Ser) rs1085307542
NM_001040142.2(SCN2A):c.4861T>C (p.Ser1621Pro) rs1057517853
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter) rs1064794730
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met) rs796053160
NM_001040142.2(SCN2A):c.4964T>C (p.Met1655Thr) rs1064794721
NM_001040142.2(SCN2A):c.5003del (p.Phe1668fs) rs1064796620
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.554C>T (p.Thr185Ile) rs1553567347
NM_001040142.2(SCN2A):c.620T>G (p.Phe207Cys) rs1064796691
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.718G>A (p.Ala240Thr) rs1064795014
NM_001040142.2(SCN2A):c.718_719delinsTT (p.Ala240Phe) rs796053206
NM_001040142.2(SCN2A):c.775C>A (p.Leu259Ile) rs1064795018

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