ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by OMIM

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 210
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HGVS dbSNP
CHRNA4, 3-BP INS, 776GCT
CLN3, 3-KB DEL, NT928
CLN3, 6-KB DEL
CLN3, IVSDS, G-C, +1/76-BP DEL
CSTB, 2-BP DEL, 2404TC
LGI1, 1-BP DEL, 835C
LGI1, 1320C-T
LGI1, 81-KB DEL
LGI1, IVS3AS, C-A, -3
LGI1, IVS5DS, G-A, +1
MFSD8, 2-BP DEL/2-BP INS
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3)
NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) rs74315443
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000310.3(PPT1):c.134G>A (p.Cys45Tyr) rs137852702
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.236A>G (p.Asp79Gly) rs137852697
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.322G>C (p.Gly108Arg) rs137852701
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) rs137852698
NM_000391.3(TPP1):c.1093T>C (p.Cys365Arg) rs119455953
NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.3(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.616C>T (p.Arg206Cys) rs28940573
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.3(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.3(TPP1):c.887-10A>G rs755445790
NM_000682.6(ADRA2B):c.675_686delTGGTGGGGCTTTinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg) rs879255577
NM_000742.3(CHRNA2):c.1126C>T (p.Arg376Trp) rs1018084204
NM_000742.3(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000742.3(CHRNA2):c.889A>T (p.Ile297Phe) rs1554514507
NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.2(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.2(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000833.4(GRIN2A):c.1007+1G>A rs397518465
NM_000833.4(GRIN2A):c.1123-2A>G rs397518469
NM_000833.4(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_000833.4(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_000833.4(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_000833.4(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_000833.4(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_000833.4(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_000833.4(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_000833.4(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_000833.4(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_000833.4(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001014797.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333
NM_001014797.2(KCNMA1):c.2662G>A (p.Glu888Lys) rs1554966197
NM_001042432.1(CLN3):c.461-280_677+382del rs1555468634
NM_001077350.2(NPRL3):c.1070del (p.Pro357Hisfs) rs886037962
NM_001077350.2(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961
NM_001077350.2(NPRL3):c.1376_1377insAC (p.Ser460Profs) rs886037960
NM_001077350.2(NPRL3):c.835_836insT (p.Ser279Phefs) rs886037958
NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001122752.1(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001242896.1(DEPDC5):c.1122delA (p.Leu374PhefsTer30) rs879255234
NM_001242896.1(DEPDC5):c.489_491delGTT (p.Phe164del) rs587776974
NM_001242896.2(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459
NM_001242896.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242896.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242896.2(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038
NM_001242896.2(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614
NM_001242896.2(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.2(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.2(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.2(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001243248.1(NPRL3):c.1277-4_1277-1delACAGinsTGACCCATCC rs886037959
NM_001909.4(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.4(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.4(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.4(CTSD):c.685T>A (p.Phe229Ile) rs121912789
NM_001909.5(CTSD):c.764dup (p.Tyr255Terfs) rs786205105
NM_002087.3(GRN):c.813_816delCACT (p.Thr272Serfs) rs63749877
NM_002247.3(KCNMA1):c.2984A>G (p.Asn995Ser) rs886039469
NM_003793.3(CTSF):c.1373G>C (p.Gly458Ala) rs397514732
NM_003793.3(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003793.3(CTSF):c.213+1G>C rs797045136
NM_003793.3(CTSF):c.692A>G (p.Tyr231Cys) rs143889283
NM_003793.3(CTSF):c.954del (p.Ser319Leufs) rs753084727
NM_003793.3(CTSF):c.962A>G (p.Gln321Arg) rs397514731
NM_004287.3(GOSR2):c.430G>T rs387906881
NM_004287.4(GOSR2):c.491_493del (p.Lys164del) rs863223401
NM_005025.4(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_005025.4(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_005045.3(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.3(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.3(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.3(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005076.4(CNTN2):c.503del (p.Trp168Cysfs) rs398122387
NM_005097.2(LGI1):c.406C>T (p.Arg136Trp) rs119488099
NM_005097.3(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.3(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.3(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.3(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.3(LGI1):c.953T>G (p.Phe318Cys) rs28939075
NM_005506.3(SCARB2):c.1114-2A>C rs727502781
NM_005506.3(SCARB2):c.1239+1G>T rs727502772
NM_005506.3(SCARB2):c.1258delG (p.Glu420Argfs) rs727502782
NM_005506.3(SCARB2):c.434_435dupAG (p.Trp146Serfs) rs727502773
NM_005506.3(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.3(SCARB2):c.862C>T (p.Gln288Ter) rs121909118
NM_005506.4(SCARB2):c.1187+2dup rs727502783
NM_005670.3(EPM2A):c.322C>T (p.Arg108Cys) rs137852915
NM_005670.3(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.3(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.3(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.335dup (p.Tyr112Terfs) rs587776553
NM_005670.4(EPM2A):c.950dup (p.Gln319Profs) rs587776554
NM_006493.2(CLN5):c.1054G>T (p.Glu352Ter) rs121908292
NM_006493.2(CLN5):c.1121A>G (p.Tyr374Cys) rs148862100
NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) rs386833969
NM_006493.2(CLN5):c.225G>A (p.Trp75Ter) rs104894385
NM_006493.2(CLN5):c.335G>A (p.Arg112His) rs104894386
NM_006493.2(CLN5):c.377G>A (p.Cys126Tyr) rs267606738
NM_006493.2(CLN5):c.694C>T (p.Gln232Ter) rs869312751
NM_006493.2(CLN5):c.713-42_*46del600 rs1555274312
NM_006493.2(CLN5):c.835G>A (p.Asp279Asn) rs28940280
NM_006493.2(CLN5):c.935G>A (p.Ser312Asn) rs730882146
NM_006545.4(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.4(NPRL2):c.314T>C (p.Leu105Pro) rs886037965
NM_006545.4(NPRL2):c.68_69del (p.Ile23Asnfs) rs886037966
NM_006545.4(NPRL2):c.883C>T (p.Arg295Ter) rs886037964
NM_006922.3(SCN3A):c.1070G>A (p.Arg357Gln) rs774195502
NM_006922.3(SCN3A):c.2443G>A (p.Asp815Asn) rs755440336
NM_006922.3(SCN3A):c.4114A>G (p.Met1372Val) rs758906955
NM_015973.4(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_017882.2(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.2(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.2(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.2(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.2(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.2(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.2(CLN6):c.395_396delCT (p.Ser132Cysfs) rs774543080
NM_017882.2(CLN6):c.511_513delTAT (p.Tyr172del) rs121908079
NM_017882.2(CLN6):c.542+5G>T rs786205066
NM_017882.2(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.2(CLN6):c.7del (p.Ala3Argfs) rs786205065
NM_017882.3(CLN6):c.268_271dup (p.Val91Glufs) rs786205067
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.66delG (p.Ile23Serfs) rs34238807
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.3(CLN8):c.88G>C (p.Ala30Pro) rs137852883
NM_018941.3(CLN8):c.88delG (p.Ala30Leufs) rs386834139
NM_020226.3(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_020361.4(CPA6):c.587A>G (p.His196Arg) rs376266840
NM_020361.4(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.4(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020361.4(CPA6):c.809C>T (p.Ala270Val) rs114402678
NM_020822.2(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.2(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.2(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_020822.2(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405
NM_021267.4(CERS1):c.549C>G (p.His183Gln) rs200024180
NM_025219.2(DNAJC5):c.344T>G (p.Leu115Arg) rs387907043
NM_025219.2(DNAJC5):c.346_348delCTC (p.Leu116del) rs587776892
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr) rs797045143
NM_152778.2(MFSD8):c.1102G>C (p.Asp368His) rs727502800
NM_152778.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970
NM_152778.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.2(MFSD8):c.1286G>A (p.Gly429Asp) rs118203976
NM_152778.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.2(MFSD8):c.863+3_863+4insT rs727502801
NM_152778.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_152778.2(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977
NM_152778.2(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_153026.2(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.2(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.2(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) rs387907260
NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter) rs267607199
NM_153033.4(KCTD7):c.322C>A (p.Leu108Met) rs387907263
NM_153033.4(KCTD7):c.343G>T (p.Asp115Tyr) rs387907262
NM_153033.4(KCTD7):c.594del (p.Ile199Serfs) rs727502785
NM_153033.4(KCTD7):c.818A>T (p.Asn273Ile) rs387907261
NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530
NM_172218.2(SPAG1):c.2542del (p.Asp848Ilefs) rs886037653
NM_172218.2(SPAG1):c.679G>T (p.Glu227Ter) rs397518459
NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.2(NHLRC1):c.468_469delAG (p.Gly158Argfs) rs587776542
NM_198586.2(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.2(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575
NM_198586.2(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.2(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.2(NHLRC1):c.992del (p.Gly331Glufs) rs587776543
PPT1, 1-BP INS, 169A
PPT1, 451C-T
SAMD12, 5-BP INS, TTTCA(n)
SCN3A, LEU247PRO
SERPINI1, SER52ARG
m.13042G>A rs267606898
m.3256C>T rs199474659
m.611G>A rs118203886
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8361G>A rs118192104

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