ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy

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Total variants: 70
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HGVS dbSNP
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
NM_000814.6(GABRB3):c.851T>G (p.Leu284Arg) rs1595440453
NM_001032221.6(STXBP1):c.1216C>G (p.Arg406Gly) rs796053367
NM_001040142.2(SCN2A):c.164A>C (p.Asp55Ala) rs1574525321
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.4031G>A (p.Cys1344Tyr) rs1057519527
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001174051.3(CACNA2D2):c.1778G>C (p.Arg593Pro) rs1485894376
NM_001278512.2(AP3B2):c.1110+1G>C rs1057519270
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) rs1057519269
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_002397.5(MEF2C):c.65C>G (p.Thr22Arg) rs1580990072
NM_003165.4(STXBP1):c.1082C>T (p.Thr361Ile) rs1057518985
NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter) rs1260191836
NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys) rs1578264574
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp) rs113094436
NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser) rs770456604
NM_003359.4(UGDH):c.125T>C (p.Ile42Thr) rs1578282133
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104
NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp) rs201894374
NM_003359.4(UGDH):c.1328G>A (p.Arg443His) rs1053767552
NM_003359.4(UGDH):c.1346A>G (p.His449Arg) rs779324355
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198
NM_003359.4(UGDH):c.214T>G (p.Ser72Ala) rs769243823
NM_003359.4(UGDH):c.244G>A (p.Ala82Thr) rs1578274054
NM_003359.4(UGDH):c.374T>C (p.Ile125Thr) rs1578270476
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys) rs369608407
NM_003359.4(UGDH):c.463C>T (p.Gln155Ter) rs1381665298
NM_003359.4(UGDH):c.523C>G (p.Pro175Ala) rs756467468
NM_003359.4(UGDH):c.651G>C (p.Glu217Asp) rs1578269761
NM_003359.4(UGDH):c.70G>A (p.Ala24Thr) rs1306655122
NM_003359.4(UGDH):c.764T>C (p.Ile255Thr) rs1186496501
NM_003359.4(UGDH):c.811G>C (p.Gly271Arg) rs1578269200
NM_003359.4(UGDH):c.907G>A (p.Val303Ile) rs1578265068
NM_003359.4(UGDH):c.916A>G (p.Met306Val) rs1578265048
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn) rs1555889090
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg) rs1569017073
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly) rs1568658507
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) rs1569017257
NM_005660.3(SLC35A2):c.500_509del (p.Leu167fs) rs1057519000
NM_005859.5(PURA):c.98del (p.Gly33fs) rs1581036073
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro) rs1057519545
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) rs780680047
NM_014191.4(SCN8A):c.2617G>T (p.Gly873Cys)
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016729.3(FOLR1):c.287G>A (p.Cys96Tyr) rs1057518816
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_152269.5(C12orf65):c.248del (p.Val83fs) rs587776508
NM_152296.5(ATP1A3):c.1048_1053del (p.Asn350_Leu351del) rs1599719527
NM_153033.4(KCTD7):c.340G>T (p.Gly114Trp) rs1584399108
NM_153033.4(KCTD7):c.362G>T (p.Arg121Leu) rs199624315
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.590T>C (p.Leu197Pro) rs1600786071
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser) rs1057519535
NM_177550.5(SLC13A5):c.1451del (p.Gly484fs) rs1597653264
NM_177550.5(SLC13A5):c.332T>G (p.Leu111Arg) rs1597676610

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