ClinVar Miner

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

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP
NC_000006.11:g.(?_145946811)_(146056654_?)del
NC_000006.11:g.(?_146007238)_(146007452_?)del
NC_000007.13:g.(?_66103220)_(66104239_?)del
NC_000008.10:g.(?_1719201)_(1728753_?)del
NC_000008.10:g.(?_1719211)_(1728743_?)del
NC_000013.10:g.(?_77566067)_(77575124_?)del
NC_000015.9:g.(?_68521820)_(68521942_?)del
NC_000015.9:g.(?_68521830)_(68521932_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_148123)_(150527_?)del
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_180501)_(180610_?)del
NC_000016.9:g.(?_180501)_(188286_?)del
NC_000016.9:g.(?_28497286)_(28498251_?)del
NC_000016.9:g.(?_28497648)_(28497991_?)del
NC_000016.9:g.(?_28497668)_(28497971_?)del
NC_000016.9:g.(?_28498757)_(28503100_?)del
NC_000016.9:g.(?_28498777)_(28607251_?)del
NC_000016.9:g.(?_9943593)_(9943838_?)del
NC_000016.9:g.(?_9984823)_(9984977_?)del
NC_000022.10:g.(?_32150888)_(32150985_?)del
NC_000022.10:g.(?_32150888)_(32211218_?)del
NC_000022.10:g.(?_32150888)_(32302503_?)del
NC_000022.10:g.(?_32154512)_(32154639_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32160941)_(32162674_?)del
NC_000022.10:g.(?_32200128)_(32206647_?)del
NC_000022.10:g.(?_32205577)_(32211218_?)del
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.200_203dup (p.Val69fs)
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.335_336del (p.Met112fs)
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.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs)
NM_000310.3(PPT1):c.6del (p.Ser3fs)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs)
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000833.5(GRIN2A):c.1648del (p.Phe549_Leu550insTer)
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.341del (p.Pro114fs)
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter)
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter)
NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu)
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs)
NM_001242897.2(DEPDC5):c.1018del (p.Val340fs)
NM_001242897.2(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242897.2(DEPDC5):c.1224C>A (p.Tyr408Ter)
NM_001242897.2(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242897.2(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242897.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242897.2(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242897.2(DEPDC5):c.2091T>A (p.Tyr697Ter)
NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242897.2(DEPDC5):c.2660_2685del (p.His887fs) rs1555900914
NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter) rs587777458
NM_001242897.2(DEPDC5):c.3247del (p.Ala1083fs) rs1569166925
NM_001242897.2(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242897.2(DEPDC5):c.3502C>T (p.Arg1168Ter) rs886039268
NM_001242897.2(DEPDC5):c.3568C>T (p.Gln1190Ter) rs1569186093
NM_001242897.2(DEPDC5):c.3694C>T (p.Arg1232Ter) rs886039269
NM_001242897.2(DEPDC5):c.3907C>T (p.Gln1303Ter)
NM_001242897.2(DEPDC5):c.4146dup (p.Val1383fs)
NM_001242897.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242897.2(DEPDC5):c.4201C>T (p.Gln1401Ter)
NM_001242897.2(DEPDC5):c.4201_4202dup (p.Gln1401fs) rs1569254004
NM_001242897.2(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242897.2(DEPDC5):c.784_785GA[2] (p.Arg263fs) rs1569523728
NM_001242897.2(DEPDC5):c.788_792GAAGA[1] (p.Glu265fs)
NM_001242897.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242897.2(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_002087.3(GRN):c.1414-2A>G rs1555611412
NM_002087.3(GRN):c.709-2A>G rs63750548
NM_002087.3(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.3(GRN):c.836-1G>C rs63751296
NM_002087.3(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_004287.4(GOSR2):c.184A>T (p.Lys62Ter)
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs) rs1555273604
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
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.566_*1548del (p.Gly189fs)
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) rs774543080
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777
NM_018941.3(CLN8):c.295C>T (p.Gln99Ter)
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) rs397515402
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) rs587776892
NM_152778.3(MFSD8):c.1036del (p.Val346fs) rs1439582451
NM_152778.3(MFSD8):c.1086del (p.Ile364fs) rs1460276679
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter)
NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter) rs1560776422
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_152778.3(MFSD8):c.831dup (p.Val278fs)
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)

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