ClinVar Miner

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

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000086.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_000086.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_000086.2(CLN3):c.1A>G (p.Met1Val) rs386833708
NM_000086.2(CLN3):c.223-1G>A rs1555469089
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.279_280CT[1] (p.Ser94fs) rs1057517215
NM_000086.2(CLN3):c.295-2A>C rs1478660606
NM_000086.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_000086.2(CLN3):c.46+1G>A rs1057516343
NM_000086.2(CLN3):c.46+1G>C rs1057516343
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.677+1G>T rs1057517287
NM_000086.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_000086.2(CLN3):c.791-1G>A rs1057517350
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+2T>A rs771788391
NM_000086.2(CLN3):c.962+1G>A rs1057516267
NM_000086.2(CLN3):c.963-1G>A rs386833742
NM_000086.2(CLN3):c.963-2A>C rs1418997146
NM_000310.3(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.3(PPT1):c.124+2T>A rs1057517368
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.3(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000310.3(PPT1):c.249_251CTT[2] (p.Phe85del) rs386833637
NM_000310.3(PPT1):c.281_282del (p.Thr94fs) rs1553167479
NM_000310.3(PPT1):c.294_297dup (p.Ala100fs) rs1057517049
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.327C>A (p.Tyr109Ter) rs1057516447
NM_000310.3(PPT1):c.338del (p.Gly113fs) rs1553167474
NM_000310.3(PPT1):c.362+1G>A rs1057517401
NM_000310.3(PPT1):c.363-2A>G rs1553167430
NM_000310.3(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) rs796052925
NM_000310.3(PPT1):c.433+1G>A rs1553167415
NM_000310.3(PPT1):c.48_54del (p.Trp17fs) rs1057517112
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>T (p.Gln177Ter) rs386833650
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.3(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.3(PPT1):c.776dup (p.Glu260fs) rs1349528345
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.3(PPT1):c.798+2T>C rs1553166337
NM_000310.3(PPT1):c.799-2A>G rs1553166147
NM_000310.3(PPT1):c.821dup (p.Met274fs) rs1057516575
NM_000310.3(PPT1):c.835C>T (p.Gln279Ter) rs1553166135
NM_000310.3(PPT1):c.8C>A (p.Ser3Ter) rs747204624
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) rs1554901576
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) rs1407106889
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+1G>C rs786204553
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1552-1G>A rs1057516511
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) rs1554901463
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) rs1057516579
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.182_183TC[1] (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) rs1554902043
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.609dup (p.Val204fs) rs1057516366
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_001042432.1(CLN3):c.125+1delG rs1555469452
NM_001042432.1(CLN3):c.790+1delG rs1555468374
NM_006493.4(CLN5):c.119del (p.Gly40fs) rs1555273609
NM_006493.4(CLN5):c.131_132TC[1] (p.Ser45fs) rs780198002
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
NM_006493.4(CLN5):c.191del (p.Pro64fs) rs1555273882
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.565+1G>A rs1555274014
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) rs1555274337
NM_006493.4(CLN5):c.703_704GT[1] (p.Leu236fs) rs1555274343
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) rs1555274344
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs) rs1057516814
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.906del (p.Glu303fs) rs1555274369
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) rs750935331
NM_006493.4(CLN5):c.995del (p.Leu332fs) rs1555274387
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.486+1G>A rs756522171
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.784_785CT[3] (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701
NM_018941.3(CLN8):c.204del (p.Thr69fs) rs1554449028
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.3(CLN8):c.263del (p.Asp88fs) rs1057516582
NM_018941.3(CLN8):c.283A>T (p.Lys95Ter) rs759830733
NM_018941.3(CLN8):c.2T>C (p.Met1Thr) rs1554448874
NM_018941.3(CLN8):c.306G>A (p.Trp102Ter) rs1554449124
NM_018941.3(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.3(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.3(CLN8):c.47del (p.Leu16fs) rs1057516867
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.50del (p.Asp17fs) rs1554448924
NM_018941.3(CLN8):c.543+1G>T rs756267448
NM_018941.3(CLN8):c.544-2A>G rs1554451484
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_018941.3(CLN8):c.594del (p.His199fs) rs1554451504
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.709G>A (p.Gly237Arg) rs746645358
NM_018941.3(CLN8):c.763C>T (p.Gln255Ter) rs746397087

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