ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance for Early infantile epileptic encephalopathy

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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP
NC_000012.12:g.(?_51684154)_(51701227_?)del
NC_000012.12:g.(?_51780629)_(51780791_?)del
NM_001330260.2(SCN8A):c.1084G>T (p.Ala362Ser) rs1592390497
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1101G>A (p.Met367Ile) rs1555219147
NM_001330260.2(SCN8A):c.1367G>A (p.Gly456Glu) rs1592393570
NM_001330260.2(SCN8A):c.1411G>A (p.Gly471Arg) rs748156622
NM_001330260.2(SCN8A):c.1426A>C (p.Ser476Arg) rs1060501008
NM_001330260.2(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_001330260.2(SCN8A):c.1474C>T (p.Arg492Cys) rs576362165
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383
NM_001330260.2(SCN8A):c.1520A>C (p.Glu507Ala) rs371383623
NM_001330260.2(SCN8A):c.1570A>G (p.Met524Val) rs886042925
NM_001330260.2(SCN8A):c.1613G>A (p.Arg538Lys) rs1057518528
NM_001330260.2(SCN8A):c.1655G>C (p.Gly552Ala) rs957905474
NM_001330260.2(SCN8A):c.1691G>A (p.Ser564Asn) rs1592405696
NM_001330260.2(SCN8A):c.1715G>A (p.Gly572Glu) rs1085307867
NM_001330260.2(SCN8A):c.1730C>A (p.Pro577Gln) rs373820887
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_001330260.2(SCN8A):c.1817G>A (p.Arg606Gln) rs1359860813
NM_001330260.2(SCN8A):c.1824C>T (p.Arg608=) rs756753738
NM_001330260.2(SCN8A):c.1846_1854GGCTACAGC[1] (p.616_618GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1846_1854GGCTACAGC[3] (p.616_618GYS[3]) rs758276968
NM_001330260.2(SCN8A):c.1937A>G (p.Asn646Ser) rs1565900032
NM_001330260.2(SCN8A):c.1954A>G (p.Ile652Val) rs1048609401
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791
NM_001330260.2(SCN8A):c.2056G>T (p.Asp686Tyr) rs373073046
NM_001330260.2(SCN8A):c.2171A>G (p.Tyr724Cys) rs1592142754
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2486_2489delinsCCATTA (p.Leu829fs) rs1592148206
NM_001330260.2(SCN8A):c.2545-5C>G
NM_001330260.2(SCN8A):c.2671G>A (p.Val891Met) rs1592149793
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly) rs1592149906
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.3008G>A (p.Arg1003His) rs752402332
NM_001330260.2(SCN8A):c.3061G>T (p.Ala1021Ser) rs781237471
NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val) rs376547086
NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser) rs587780453
NM_001330260.2(SCN8A):c.3161A>C (p.His1054Pro) rs1060501009
NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp) rs370141803
NM_001330260.2(SCN8A):c.3230A>G (p.Tyr1077Cys) rs746302474
NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3373-8G>A rs1275858718
NM_001330260.2(SCN8A):c.3433G>A (p.Glu1145Lys) rs1324401898
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys) rs1555226823
NM_001330260.2(SCN8A):c.3769G>A (p.Val1257Ile) rs750829844
NM_001330260.2(SCN8A):c.3801G>A (p.Leu1267=) rs1592154970
NM_001330260.2(SCN8A):c.3921A>T (p.Leu1307Phe) rs1565923638
NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala) rs1592162415
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4064A>G (p.Tyr1355Cys) rs1592162522
NM_001330260.2(SCN8A):c.417G>A (p.Met139Ile) rs1565886685
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu) rs1555228668
NM_001330260.2(SCN8A):c.4397A>G (p.Asn1466Ser) rs587777723
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr) rs1592164705
NM_001330260.2(SCN8A):c.4477A>G (p.Lys1493Glu) rs1060501011
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396
NM_001330260.2(SCN8A):c.4704G>T (p.Glu1568Asp) rs1207860967
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263
NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_001330260.2(SCN8A):c.4885C>T (p.Arg1629Cys) rs1592174265
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe) rs773587801
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser) rs1592174367
NM_001330260.2(SCN8A):c.5176G>T (p.Glu1726Ter) rs1555230980
NM_001330260.2(SCN8A):c.5266A>G (p.Ile1756Val) rs1592174549
NM_001330260.2(SCN8A):c.5269G>A (p.Val1757Ile) rs1555231008
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_001330260.2(SCN8A):c.5491G>A (p.Ala1831Thr) rs767305170
NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val) rs202187894
NM_001330260.2(SCN8A):c.5549C>T (p.Ala1850Val) rs1592174793
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5607G>A (p.Met1869Ile) rs1565934425
NM_001330260.2(SCN8A):c.5645C>A (p.Ser1882Tyr) rs1592174945
NM_001330260.2(SCN8A):c.5659A>G (p.Thr1887Ala) rs1592174975
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_001330260.2(SCN8A):c.5710C>T (p.Arg1904Cys) rs367984544
NM_001330260.2(SCN8A):c.5711G>A (p.Arg1904His) rs142069713
NM_001330260.2(SCN8A):c.5794C>T (p.Arg1932Trp) rs773966403
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala) rs1565934813
NM_001330260.2(SCN8A):c.615-193G>T rs1592380672
NM_001330260.2(SCN8A):c.707G>A (p.Gly236Asp) rs1555218603
NM_001330260.2(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_001330260.2(SCN8A):c.986A>C (p.Asp329Ala) rs1592389210
NM_001330260.2(SCN8A):c.996A>G (p.Gln332=) rs1057522020
NM_014191.4(SCN8A):c.1080C>G (p.Phe360Leu)
NM_014191.4(SCN8A):c.1106A>T (p.Gln369Leu)
NM_014191.4(SCN8A):c.1193G>C (p.Gly398Ala)
NM_014191.4(SCN8A):c.1230G>A (p.Val410=)
NM_014191.4(SCN8A):c.1243G>A (p.Glu415Lys)
NM_014191.4(SCN8A):c.1439T>C (p.Ile480Thr)
NM_014191.4(SCN8A):c.1468G>C (p.Glu490Gln)
NM_014191.4(SCN8A):c.1493G>C (p.Arg498Thr)
NM_014191.4(SCN8A):c.1621T>G (p.Ser541Ala)
NM_014191.4(SCN8A):c.1717C>T (p.Arg573Trp)
NM_014191.4(SCN8A):c.1801C>T (p.Leu601Phe)
NM_014191.4(SCN8A):c.1823G>A (p.Arg608His)
NM_014191.4(SCN8A):c.1832G>A (p.Arg611Gln)
NM_014191.4(SCN8A):c.1874G>A (p.Arg625His)
NM_014191.4(SCN8A):c.1883G>C (p.Arg628Pro)
NM_014191.4(SCN8A):c.1962_1982dup (p.Pro655_Gly661dup)
NM_014191.4(SCN8A):c.2042T>A (p.Leu681His)
NM_014191.4(SCN8A):c.2058C>G (p.Asp686Glu)
NM_014191.4(SCN8A):c.2074G>A (p.Gly692Arg)
NM_014191.4(SCN8A):c.2098A>G (p.Ile700Val)
NM_014191.4(SCN8A):c.2132-6C>A
NM_014191.4(SCN8A):c.2139A>C (p.Glu713Asp)
NM_014191.4(SCN8A):c.2166C>G (p.Cys722Trp)
NM_014191.4(SCN8A):c.2234T>C (p.Ile745Thr)
NM_014191.4(SCN8A):c.2359G>A (p.Val787Ile)
NM_014191.4(SCN8A):c.2560T>A (p.Leu854Met)
NM_014191.4(SCN8A):c.2608A>C (p.Asn870His)
NM_014191.4(SCN8A):c.2799G>T (p.Leu933Phe)
NM_014191.4(SCN8A):c.2881A>G (p.Met961Val)
NM_014191.4(SCN8A):c.296G>C (p.Arg99Thr)
NM_014191.4(SCN8A):c.3049G>T (p.Ala1017Ser)
NM_014191.4(SCN8A):c.3129C>G (p.Asn1043Lys)
NM_014191.4(SCN8A):c.3268C>T (p.Pro1090Ser)
NM_014191.4(SCN8A):c.3269C>T (p.Pro1090Leu)
NM_014191.4(SCN8A):c.3272A>C (p.Asn1091Thr)
NM_014191.4(SCN8A):c.3274T>A (p.Leu1092Met)
NM_014191.4(SCN8A):c.3303C>T (p.Gly1101=)
NM_014191.4(SCN8A):c.3377T>A (p.Leu1126Gln)
NM_014191.4(SCN8A):c.3479G>A (p.Cys1160Tyr)
NM_014191.4(SCN8A):c.3530A>G (p.Glu1177Gly)
NM_014191.4(SCN8A):c.3583G>A (p.Val1195Met)
NM_014191.4(SCN8A):c.3593A>G (p.Asn1198Ser)
NM_014191.4(SCN8A):c.3839T>C (p.Ile1280Thr)
NM_014191.4(SCN8A):c.3926G>A (p.Arg1309Gln)
NM_014191.4(SCN8A):c.4174G>A (p.Val1392Met)
NM_014191.4(SCN8A):c.421A>G (p.Thr141Ala)
NM_014191.4(SCN8A):c.4325T>C (p.Ile1442Thr)
NM_014191.4(SCN8A):c.4342A>G (p.Ile1448Val)
NM_014191.4(SCN8A):c.4400T>G (p.Phe1467Cys)
NM_014191.4(SCN8A):c.4435A>C (p.Ile1479Leu)
NM_014191.4(SCN8A):c.4606A>G (p.Met1536Val)
NM_014191.4(SCN8A):c.4606A>T (p.Met1536Leu)
NM_014191.4(SCN8A):c.4608G>A (p.Met1536Ile)
NM_014191.4(SCN8A):c.4608G>C (p.Met1536Ile)
NM_014191.4(SCN8A):c.4724C>T (p.Ala1575Val)
NM_014191.4(SCN8A):c.4880T>A (p.Ile1627Asn)
NM_014191.4(SCN8A):c.4948G>T (p.Ala1650Ser)
NM_014191.4(SCN8A):c.4966C>T (p.Leu1656Phe)
NM_014191.4(SCN8A):c.5155C>G (p.Pro1719Ala)
NM_014191.4(SCN8A):c.5278A>G (p.Met1760Val)
NM_014191.4(SCN8A):c.5348A>T (p.Asp1783Val)
NM_014191.4(SCN8A):c.5458C>T (p.Arg1820Ter)
NM_014191.4(SCN8A):c.5459G>A (p.Arg1820Gln)
NM_014191.4(SCN8A):c.5480T>C (p.Ile1827Thr)
NM_014191.4(SCN8A):c.5515G>A (p.Gly1839Arg)
NM_014191.4(SCN8A):c.5522G>C (p.Arg1841Pro)
NM_014191.4(SCN8A):c.5596C>T (p.Arg1866Trp)
NM_014191.4(SCN8A):c.5639A>C (p.Lys1880Thr)
NM_014191.4(SCN8A):c.5640A>C (p.Lys1880Asn)
NM_014191.4(SCN8A):c.5696C>T (p.Ala1899Val)
NM_014191.4(SCN8A):c.572G>A (p.Arg191Gln)
NM_014191.4(SCN8A):c.5786G>C (p.Gly1929Ala)
NM_014191.4(SCN8A):c.660C>T (p.Arg220=)
NM_014191.4(SCN8A):c.765G>T (p.Met255Ile)
NM_014191.4(SCN8A):c.796G>A (p.Ala266Thr)

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