ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 83
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HGVS dbSNP
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987
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.1351G>A (p.Glu451Lys) rs1057518350
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
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.1530G>T (p.Gln510His) rs796053204
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.1613G>A (p.Arg538His) rs761203730
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150
NM_001040142.2(SCN2A):c.1729C>A (p.Leu577Ile) rs796053187
NM_001040142.2(SCN2A):c.1835T>C (p.Phe612Ser) rs796053188
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.1846A>G (p.Arg616Gly) rs772896106
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
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.1939G>A (p.Ala647Thr) rs548056312
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.2023A>G (p.Thr675Ala) rs371601218
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile) rs796053190
NM_001040142.2(SCN2A):c.2149+5G>A rs773024189
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.23C>T (p.Pro8Leu) rs747139785
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2962T>C (p.Ser988Pro) rs796053125
NM_001040142.2(SCN2A):c.3023G>A (p.Gly1008Glu) rs1131691300
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683
NM_001040142.2(SCN2A):c.3251A>G (p.Lys1084Arg) rs1445312692
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met) rs765278777
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) rs201124054
NM_001040142.2(SCN2A):c.3550A>G (p.Ile1184Val) rs1553590122
NM_001040142.2(SCN2A):c.3586A>G (p.Asn1196Asp) rs796053199
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020
NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe) rs1553591763
NM_001040142.2(SCN2A):c.3971G>A (p.Arg1324Lys) rs761654525
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.4169T>C (p.Ile1390Thr) rs758703434
NM_001040142.2(SCN2A):c.4303C>G (p.Arg1435Gly) rs796053138
NM_001040142.2(SCN2A):c.4321C>T (p.Pro1441Ser) rs796053141
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.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.4661A>G (p.Asp1554Gly) rs796053200
NM_001040142.2(SCN2A):c.4683C>G (p.Asn1561Lys) rs1379550929
NM_001040142.2(SCN2A):c.4748T>C (p.Ile1583Thr) rs367566833
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4895G>A (p.Arg1632Lys) rs796053158
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.5339G>A (p.Ser1780Asn) rs796053163
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.5465C>T (p.Ala1822Val) rs757542048
NM_001040142.2(SCN2A):c.5493A>G (p.Ile1831Met) rs1553463680
NM_001040142.2(SCN2A):c.5514G>C (p.Gln1838His) rs547095921
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
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.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.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.607T>G (p.Tyr203Asp) rs1553567515
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040142.2(SCN2A):c.811A>G (p.Met271Val) rs1553567946
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) rs765714006
NM_001040142.2(SCN2A):c.890A>G (p.Asn297Ser) rs796053174
NM_001040142.2(SCN2A):c.913_915ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.921C>G (p.Phe307Leu) rs1553568092

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