ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
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HGVS dbSNP
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1048del (p.Leu350fs) rs386833696
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1056G>C (p.Gln352His) rs386833699
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703
NM_000086.2(CLN3):c.125+5G>A rs386833704
NM_000086.2(CLN3):c.126-1G>A rs386833705
NM_000086.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_000086.2(CLN3):c.1272del (p.Leu425fs) rs386833707
NM_000086.2(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.222+2T>G rs386833710
NM_000086.2(CLN3):c.222+5G>C rs386833711
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_000086.2(CLN3):c.302T>C (p.Leu101Pro) rs386833714
NM_000086.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_000086.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_000086.2(CLN3):c.378_379dup (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.461-13G>C rs386833721
NM_000086.2(CLN3):c.461-1G>A rs386833722
NM_000086.2(CLN3):c.461-1G>C rs386833722
NM_000086.2(CLN3):c.472G>C (p.Ala158Pro) rs386833723
NM_000086.2(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_000086.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_000086.2(CLN3):c.49G>T (p.Glu17Ter) rs386833726
NM_000086.2(CLN3):c.509T>C (p.Leu170Pro) rs386833727
NM_000086.2(CLN3):c.533+1G>A rs386833728
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.560G>C (p.Gly187Ala) rs386833730
NM_000086.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_000086.2(CLN3):c.569del (p.Gly190fs) rs386833732
NM_000086.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.586dup (p.Ala196fs) rs386833735
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+5G>A rs386833739
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.954_962+18del rs386833741
NM_000086.2(CLN3):c.963-1G>T rs386833742
NM_000086.2(CLN3):c.979C>T (p.Gln327Ter) rs386833743
NM_000086.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000310.3(PPT1):c.*526_*529delATCA rs386833624
NM_000310.3(PPT1):c.114G>A (p.Trp38Ter) rs386833626
NM_000310.3(PPT1):c.114G>T (p.Trp38Cys) rs386833626
NM_000310.3(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.3(PPT1):c.117T>A (p.His39Gln) rs386833627
NM_000310.3(PPT1):c.124+1G>A rs386833628
NM_000310.3(PPT1):c.125-15T>G rs386833629
NM_000310.3(PPT1):c.125-2A>G rs386833630
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.135_137dup (p.Cys46dup) rs386833632
NM_000310.3(PPT1):c.163A>T (p.Lys55Ter) rs386833633
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.235-3T>C rs386833636
NM_000310.3(PPT1):c.249_251CTT[2] (p.Phe85del) rs386833637
NM_000310.3(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe) rs386833638
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.310A>T (p.Lys104Ter) rs386833641
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.363-3T>G rs386833643
NM_000310.3(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.455G>A (p.Cys152Tyr) rs386833647
NM_000310.3(PPT1):c.456C>A (p.Cys152Ter) rs386833648
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.536+2T>C rs386833652
NM_000310.3(PPT1):c.538dup (p.Leu180fs) rs386833653
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.544C>T (p.Gln182Ter) rs386833654
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.558G>A (p.Trp186Ter) rs386833656
NM_000310.3(PPT1):c.560A>G (p.His187Arg) rs386833657
NM_000310.3(PPT1):c.566C>G (p.Pro189Arg) rs386833658
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.644del (p.Tyr215fs) rs386833660
NM_000310.3(PPT1):c.665T>C (p.Leu222Pro) rs386833661
NM_000310.3(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.3(PPT1):c.683T>G (p.Val228Gly) rs386833663
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.749G>T (p.Gly250Val) rs386833666
NM_000310.3(PPT1):c.774dup (p.Gln259fs) rs386833667
NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) rs386833668
NM_000310.3(PPT1):c.886T>C (p.Trp296Arg) rs386833669
NM_000310.3(PPT1):c.888G>A (p.Trp296Ter) rs386833670
NM_000310.3(PPT1):c.914T>C (p.Leu305Pro) rs386833671
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.339+5G>C rs202146713
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) rs386833973
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) rs386833974
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser) rs386833978
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) rs386833963
NM_006493.4(CLN5):c.922_923CT[1] (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.925_926del (p.Leu309fs) rs386833965
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.227A>G (p.Gln76Arg) rs386834125
NM_018941.3(CLN8):c.320T>G (p.Ile107Ser) rs386834126
NM_018941.3(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.3(CLN8):c.464C>T (p.Ala155Val) rs386834128
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys) rs386834130
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.3(CLN8):c.509C>T (p.Thr170Met) rs188259026
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_018941.3(CLN8):c.581A>G (p.Gln194Arg) rs386834133
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.634_636TGG[1] (p.Trp213del) rs386834135
NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) rs386834136
NM_018941.3(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.3(CLN8):c.766C>G (p.Gln256Glu) rs386834138
NM_018941.3(CLN8):c.88del (p.Ala30fs) rs386834139

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