ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance by GeneDx

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Total variants: 49
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HGVS dbSNP
NM_014191.4(SCN8A):c.1349C>T (p.Ala450Val) rs755154133
NM_014191.4(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_014191.4(SCN8A):c.1707G>C (p.Arg569Ser) rs267603508
NM_014191.4(SCN8A):c.1715G>A (p.Gly572Glu) rs1085307867
NM_014191.4(SCN8A):c.1792C>T (p.Arg598Trp) rs1064796357
NM_014191.4(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.4(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_014191.4(SCN8A):c.1962_1982del (p.Pro655_Gly661del) rs768554772
NM_014191.4(SCN8A):c.1984C>T (p.Arg662Cys) rs76222829
NM_014191.4(SCN8A):c.2387T>C (p.Phe796Ser) rs1555225481
NM_014191.4(SCN8A):c.2530C>T (p.Arg844Ter) rs1555225521
NM_014191.4(SCN8A):c.3092T>C (p.Val1031Ala) rs1057524300
NM_014191.4(SCN8A):c.3205G>A (p.Gly1069Ser) rs1064796374
NM_014191.4(SCN8A):c.331G>A (p.Ala111Thr) rs796053231
NM_014191.4(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102
NM_014191.4(SCN8A):c.3503G>A (p.Arg1168Gln) rs763817893
NM_014191.4(SCN8A):c.3640G>A (p.Ala1214Thr) rs769243993
NM_014191.4(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765
NM_014191.4(SCN8A):c.3722A>G (p.Tyr1241Cys) rs796053213
NM_014191.4(SCN8A):c.3769G>A (p.Val1257Ile) rs750829844
NM_014191.4(SCN8A):c.3830T>A (p.Val1277Asp) rs1057524050
NM_014191.4(SCN8A):c.3895A>T (p.Arg1299Ter) rs1064796430
NM_014191.4(SCN8A):c.3939G>A (p.Met1313Ile) rs1085307546
NM_014191.4(SCN8A):c.4277G>A (p.Arg1426Gln) rs1057524240
NM_014191.4(SCN8A):c.4438T>C (p.Phe1480Leu) rs796053218
NM_014191.4(SCN8A):c.457A>C (p.Asn153His) rs796053232
NM_014191.4(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471
NM_014191.4(SCN8A):c.4678G>A (p.Val1560Met) rs764328953
NM_014191.4(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263
NM_014191.4(SCN8A):c.4780A>C (p.Ile1594Leu) rs752829853
NM_014191.4(SCN8A):c.4798A>G (p.Met1600Val) rs796053221
NM_014191.4(SCN8A):c.5035G>A (p.Glu1679Lys) rs796053225
NM_014191.4(SCN8A):c.5077_5091del (p.Asn1693_Cys1697del) rs1064796263
NM_014191.4(SCN8A):c.5170G>T (p.Asp1724Tyr) rs1176149836
NM_014191.4(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_014191.4(SCN8A):c.5417G>A (p.Cys1806Tyr) rs796053226
NM_014191.4(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_014191.4(SCN8A):c.5597G>A (p.Arg1866Gln) rs1555231108
NM_014191.4(SCN8A):c.5699T>C (p.Val1900Ala) rs1064796694
NM_014191.4(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014191.4(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742
NM_014191.4(SCN8A):c.5809A>C (p.Ser1937Arg) rs796053230
NM_014191.4(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315
NM_014191.4(SCN8A):c.5887G>A (p.Glu1963Lys) rs1057518294
NM_014191.4(SCN8A):c.5887_5890GAAG[1] (p.Gly1964fs) rs1555231202
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.619A>G (p.Ile207Val) rs767123396
NM_014191.4(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_014191.4(SCN8A):c.817T>C (p.Phe273Leu) rs796053234

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