ClinVar Miner

List of variants in gene SCN2A reported as pathogenic for not provided

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Gene type:
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Total variants: 68
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HGVS dbSNP
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.1147C>G (p.Gln383Glu) rs796053178
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.1649del (p.Lys550fs) rs886039710
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter) rs1553571901
NM_001040142.2(SCN2A):c.2354del (p.Glu785fs) rs1553574729
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2562+1G>T rs796053113
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs) rs1064793850
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2715G>C (p.Lys905Asn) rs796053119
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.2942dup (p.Leu981fs) rs1553583550
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs) rs1064796203
NM_001040142.2(SCN2A):c.3401del (p.Lys1134fs) rs796053192
NM_001040142.2(SCN2A):c.3577_3578CT[1] (p.Trp1194fs) rs1553590192
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.387-2A>G rs796053169
NM_001040142.2(SCN2A):c.3892G>T (p.Glu1298Ter) rs1553593030
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.3956G>A (p.Arg1319Gln) rs121917753
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
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.4036A>G (p.Ile1346Val) rs796053135
NM_001040142.2(SCN2A):c.425del (p.Asn142fs) rs796053196
NM_001040142.2(SCN2A):c.4267G>T (p.Gly1423Ter) rs1553461660
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4308+1G>A rs886039648
NM_001040142.2(SCN2A):c.4371dup (p.Ile1458fs) rs1131691361
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.4591C>T (p.Gln1531Ter) rs1553463032
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.4718T>C (p.Leu1573Pro) rs796053152
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg) rs886041259
NM_001040142.2(SCN2A):c.4865C>G (p.Pro1622Arg) rs1558885489
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.517A>T (p.Lys173Ter) rs1553567304
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
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.605+1G>T rs796053171
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_001040142.2(SCN2A):c.708del (p.Ile237fs) rs796053198
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) rs1553567864
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.823C>T (p.Arg275Ter) rs181327458

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