ClinVar Miner

List of variants reported as likely pathogenic for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 854
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334 0.00003
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His) rs201693154 0.00001
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs) rs779219028 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_005076.5(CNTN2):c.2432-2A>G rs1196223064 0.00001
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 0.00001
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) rs1468724042 0.00001
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu) rs945627261 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
9q21.13 deletion
GRCh37/hg19 20q13.33(chr20:61038552-62907579)
GRCh37/hg19 20q13.33(chr20:61041481-62680992)
GRCh37/hg19 20q13.33(chr20:61273854-62907579)
GRCh37/hg19 20q13.33(chr20:61826780-62660844)
GRCh37/hg19 20q13.33(chr20:61944468-62104030)
GRCh37/hg19 20q13.33(chr20:61974574-62078190)
GRCh37/hg19 20q13.33(chr20:61974574-62129187)
GRCh37/hg19 20q13.33(chr20:61986847-62055559)
GRCh37/hg19 20q13.33(chr20:61986847-62224435)
GRCh37/hg19 20q13.33(chr20:62069977-62129187)
GRCh37/hg19 9q34.11(chr9:131295791-131419128)x1
NC_000001.10:g.(?_205034083)_(205035624_?)del
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NC_000002.11:g.(?_166210682)_(166211201_?)del
NC_000002.11:g.(?_166231283)_(166236819_?)del
NC_000002.11:g.(?_166237239)_(166239066_?)del
NC_000002.12:g.(?_165342276)_(165389844_?)del
NC_000005.10:g.(?_162142144)_(162153388_?)del
NC_000005.9:g.(?_161292707)_(161495132_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)dup
NC_000008.11:g.(?_132180137)_(132186201_?)dup
NC_000012.11:g.52199766_52388207del
NC_000015.9:g.(?_93540167)_(93540653_?)dup
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NC_000016.10:g.(?_78278583)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NC_000016.9:g.(?_78143655)_(78466669_?)dup
NC_000016.9:g.(?_78148926)_(78166880_?)del
NC_000016.9:g.(?_78420737)_(78420865_?)dup
NC_000016.9:g.(?_78458747)_(78466669_?)dup
NC_000016.9:g.(?_9892114)_(10032428_?)dup
NC_000016.9:g.(?_9916101)_(9943838_?)dup
NC_000016.9:g.(?_9943593)_(10032428_?)dup
NC_000020.10:g.(?_8661338)_(8678351_?)del
NC_000020.10:g.(?_8665559)_(8770928_?)dup
NC_000023.10:g.(?_18582577)_(18627710_?)dup
NC_000023.10:g.(?_18582577)_(18631415_?)dup
NC_000023.11:g.(18581559_18597843)dup
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly) rs2140199587
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.173-2A>T rs1891176092
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.241-1G>A
NM_000814.6(GABRB3):c.379A>G (p.Lys127Glu) rs2140536974
NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly)
NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn) rs78196007
NM_000814.6(GABRB3):c.467C>T (p.Thr156Ile)
NM_000814.6(GABRB3):c.481T>A (p.Cys161Ser)
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) rs1890857965
NM_000814.6(GABRB3):c.545-2A>G
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) rs1890744574
NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro) rs797045045
NM_000814.6(GABRB3):c.730G>A (p.Gly244Arg)
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) rs1890229646
NM_000814.6(GABRB3):c.758C>A (p.Pro253His) rs1064796514
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000814.6(GABRB3):c.761C>A (p.Ser254Tyr) rs1057519549
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) rs1555401942
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) rs1890228169
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val) rs2140696722
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe) rs1057518036
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000814.6(GABRB3):c.845C>G (p.Thr282Ser)
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala) rs1595440443
NM_000814.6(GABRB3):c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln) rs1567106381
NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser) rs1889966666
NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu) rs1889966534
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) rs1555401425
NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr) rs1889965425
NM_000814.6(GABRB3):c.982A>C (p.Asn328His) rs2140679963
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val) rs1591643530
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg) rs867553974
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg) rs2136470509
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) rs1949321492
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp) rs771157135
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val) rs1591612279
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) rs1168374610
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3839A>C (p.Lys1280Thr)
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val) rs1591605514
NM_000834.5(GRIN2B):c.412-2A>G rs2136629609
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001037343.1:c.100-?_744+?dup
NM_001037343.2(CDKL5):c.2787del (p.Glu930fs)
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu) rs1697569337
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu) rs2105255430
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly) rs796053183
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.1672-2A>G
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val) rs1698670041
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu) rs1574636716
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe) rs1699366355
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val) rs1699475919
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer) rs2105318837
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del) rs2105319200
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu) rs2105319230
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp) rs1553583544
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly) rs1700069881
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys) rs2105336842
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del) rs1700070748
NM_001040142.2(SCN2A):c.3520+1G>T
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro) rs1700783234
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg) rs2105365343
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro) rs1701139863
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
NM_001040142.2(SCN2A):c.3973-2A>G rs1701219319
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly) rs1553593578
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn) rs1483179196
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr) rs2105373101
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val) rs1308555812
NM_001040142.2(SCN2A):c.4216G>T (p.Asp1406Tyr)
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4255-6T>A rs1701381827
NM_001040142.2(SCN2A):c.4309-2A>G
NM_001040142.2(SCN2A):c.4379G>A (p.Gly1460Asp)
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile) rs1701553334
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr) rs1085307898
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu) rs2105385669
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val) rs2105385694
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val) rs2105385817
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
NM_001040142.2(SCN2A):c.4552-2A>G
NM_001040142.2(SCN2A):c.4614G>T (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met) rs1553463140
NM_001040142.2(SCN2A):c.4822+1G>A
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala) rs1702003246
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys) rs1702003567
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met) rs796053160
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe) rs1702006673
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro) rs1702008208
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001040142.2(SCN2A):c.5616G>A (p.Met1872Ile)
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys) rs1553463772
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr) rs2105403619
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn) rs1702039582
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val) rs2105243497
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln) rs1559352517
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser) rs2105244912
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile) rs2105245017
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr) rs1553567561
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala) rs1553567561
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr) rs1064795014
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu) rs2113307162
NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)
NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
NM_001127644.2(GABRA1):c.476+2T>A rs2113381723
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys) rs2113293570
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr) rs796052491
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) rs796052492
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) rs1755063970
NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.121G>T (p.Glu41Ter)
NM_001130438.3(SPTAN1):c.1462-2A>G
NM_001130438.3(SPTAN1):c.1649del (p.Ala550fs)
NM_001130438.3(SPTAN1):c.3007-2A>G
NM_001130438.3(SPTAN1):c.3014G>A (p.Trp1005Ter)
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu) rs1589311413
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln) rs1856289676
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu) rs2131682815
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp) rs1232614751
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp) rs2130975930
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
NM_001130438.3(SPTAN1):c.5768dup (p.Asp1923fs)
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup) rs1589393179
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del) rs2131985621
NM_001130438.3(SPTAN1):c.6690-17G>A rs1554767335
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del) rs2132088836
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del) rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val) rs2131012797
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter) rs1555455521
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1008-2A>G rs2043686667
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter) rs2141482042
NM_001134407.3(GRIN2A):c.1123-1G>T rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln) rs2141369514
NM_001134407.3(GRIN2A):c.1273del (p.Pro424_Leu425insTer) rs879253760
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1328+2T>C rs2042847630
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) rs1596494610
NM_001134407.3(GRIN2A):c.1329-1G>C
NM_001134407.3(GRIN2A):c.1329-2A>C rs2141346217
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs) rs2141346061
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>C rs2141344569
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) rs267604688
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys) rs747838255
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs) rs2141342590
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs) rs2141342580
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val) rs1085307961
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter) rs2141342254
NM_001134407.3(GRIN2A):c.1630G>A (p.Val544Ile) rs2141342055
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr) rs1057523843
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro) rs1057523843
NM_001134407.3(GRIN2A):c.1651+1del rs2141341804
NM_001134407.3(GRIN2A):c.1652-2A>G rs2141325752
NM_001134407.3(GRIN2A):c.1655C>A (p.Pro552Gln) rs397518450
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter) rs1057521810
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del) rs1057519248
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs) rs2141325598
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs) rs886039604
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs) rs2050235998
NM_001134407.3(GRIN2A):c.1777+1G>C rs2141325180
NM_001134407.3(GRIN2A):c.1777+2T>C rs2141325169
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs) rs2141313067
NM_001134407.3(GRIN2A):c.1788_1789insGTG (p.Gly596_Pro597insVal) rs2042451238
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter) rs775819322
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln) rs2141312803
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1849G>A (p.Val617Met)
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp) rs2042448930
NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met) rs796052562
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly) rs1555492763
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser) rs796052545
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val) rs2141312286
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile) rs2141312277
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.1970_1978delinsT (p.Glu657fs)
NM_001134407.3(GRIN2A):c.2007+1G>A rs2141312109
NM_001134407.3(GRIN2A):c.2007+1G>T
NM_001134407.3(GRIN2A):c.2007+1del rs1596471698
NM_001134407.3(GRIN2A):c.2007+2dup rs2141312103
NM_001134407.3(GRIN2A):c.2008-1G>T rs2141295189
NM_001134407.3(GRIN2A):c.2008-2A>C
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala) rs796052547
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala) rs2141294973
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2075_2116dup (p.Arg692_Met705dup) rs2141294782
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp) rs2042303226
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val) rs2141294795
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs) rs2141294703
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2147C>T (p.Ala716Val)
NM_001134407.3(GRIN2A):c.2168+1G>C rs2141294532
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs) rs2141230698
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2314A>G (p.Lys772Glu) rs1555488094
NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn)
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2334_2338del (p.Leu779fs) rs2141230279
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs) rs2141230262
NM_001134407.3(GRIN2A):c.2356+1G>T rs2141230207
NM_001134407.3(GRIN2A):c.2357-2A>T
NM_001134407.3(GRIN2A):c.2365GAG[1] (p.Glu790del)
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter) rs1555483728
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter) rs1198247451
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs) rs2141151209
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg) rs1064795647
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met) rs752241086
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val) rs796052551
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg) rs1064796608
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val) rs751455326
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly) rs2142389389
NM_001134407.3(GRIN2A):c.2658T>A (p.Asn886Lys) rs1321794341
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe) rs1596586969
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs)
NM_001134407.3(GRIN2A):c.3426del (p.Glu1143fs)
NM_001134407.3(GRIN2A):c.3881A>T (p.Asn1294Ile)
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile) rs868762895
NM_001134407.3(GRIN2A):c.4067C>G (p.Ser1356Cys)
NM_001134407.3(GRIN2A):c.415-2A>G rs2141633312
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001134407.3(GRIN2A):c.452_463del (p.Ile151_Ala155delinsThr) rs2141632937
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter) rs1555455776
NM_001134407.3(GRIN2A):c.546dup (p.Phe183fs) rs2141632418
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser) rs2141632382
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter) rs1555455726
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs) rs796052560
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg) rs2141631426
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter) rs2044763223
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs) rs2142390867
NM_001134407.3(GRIN2A):c.934T>G (p.Tyr312Asp) rs2044756352
NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)
NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)
NM_001164664.2(MAST4):c.7655C>G (p.Ser2552Trp)
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1053-2A>C
NM_001271.4(CHD2):c.1053-2A>T
NM_001271.4(CHD2):c.1126C>T (p.Gln376Ter) rs2053431254
NM_001271.4(CHD2):c.1151_1153+4del rs2053431516
NM_001271.4(CHD2):c.1154-1G>T
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1198+2T>C
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
NM_001271.4(CHD2):c.1503-2A>G
NM_001271.4(CHD2):c.1570dup (p.Ser524fs)
NM_001271.4(CHD2):c.1628C>A (p.Ser543Tyr)
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro) rs2141816539
NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs)
NM_001271.4(CHD2):c.1898dup (p.Ile634fs)
NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys) rs2053619460
NM_001271.4(CHD2):c.1934C>G (p.Thr645Arg)
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr) rs2141836224
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2636C>G (p.Ala879Gly)
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2644GTC[1] (p.Val883del)
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu) rs2141843225
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.2764del (p.Glu922fs) rs2141844216
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
NM_001271.4(CHD2):c.2809C>G (p.His937Asp) rs1596429174
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.2816T>G (p.Val939Gly)
NM_001271.4(CHD2):c.2876+1G>T
NM_001271.4(CHD2):c.294+1G>T
NM_001271.4(CHD2):c.3069dup (p.Ala1024fs)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
NM_001271.4(CHD2):c.3414-2A>G
NM_001271.4(CHD2):c.3428A>G (p.Tyr1143Cys)
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe) rs2141861661
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3735-1G>A
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.381+1G>A rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu) rs2141867671
NM_001271.4(CHD2):c.3886-1G>C
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001271.4(CHD2):c.4137+2T>C
NM_001271.4(CHD2):c.4137+3A>G
NM_001271.4(CHD2):c.4278+1G>A rs2141873750
NM_001271.4(CHD2):c.4414-2A>G rs2141881521
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4780C>T (p.Gln1594Ter)
NM_001271.4(CHD2):c.4906+1G>T rs2141888378
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001271.4(CHD2):c.693-3C>A rs2141785016
NM_001271.4(CHD2):c.789dup (p.Glu264Ter) rs2053388293
NM_001323289.2(CDKL5):c.1082del (p.Pro361fs)
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln) rs2147132235
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly) rs1924899673
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.146-2A>C rs2147139522
NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs) rs2147160942
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
NM_001323289.2(CDKL5):c.1744del (p.Ser582fs)
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_001323289.2(CDKL5):c.2047-2A>C rs1926471092
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp) rs2147139669
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp) rs1925423909
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
NM_001323289.2(CDKL5):c.404-1G>C
NM_001323289.2(CDKL5):c.404-2_412del rs2147143992
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met) rs1310022305
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys) rs1925492808
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.464-1G>C rs786204986
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr) rs1064794734
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) rs2147145565
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533_536dup (p.Pro180fs)
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.554+2T>C
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser) rs267608418
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn) rs2147148013
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_001323289.2(CDKL5):c.601del (p.Glu203fs) rs1925697105
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly) rs1925697823
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg) rs2147148092
NM_001323289.2(CDKL5):c.64+2T>G
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg) rs1922607139
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala) rs1602232972
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
NM_001323289.2(CDKL5):c.825+1G>C
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001323289.2(CDKL5):c.826-14_835del
NM_001323289.2(CDKL5):c.826-1G>A rs587783149
NM_001323289.2(CDKL5):c.826-2A>G rs1060501859
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly) rs1926078505
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.873T>G (p.Cys291Trp)
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.99+1G>C rs267608421
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys) rs796053219
NM_001330260.2(SCN8A):c.445A>G (p.Met149Val)
NM_001330260.2(SCN8A):c.4784T>C (p.Leu1595Pro)
NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly) rs1592389210
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003159.2(CDKL5):c.464_484del
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) rs2105837590
NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)
NM_004171.4(SLC1A2):c.689T>C (p.Ile230Thr)
NM_004171.4(SLC1A2):c.746del (p.Phe249fs)
NM_004171.4(SLC1A2):c.827T>G (p.Ile276Ser)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004171.4(SLC1A2):c.872G>T (p.Gly291Val)
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.2369del (p.Pro790fs)
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.632A>T (p.Asp211Val)
NM_004519.4(KCNQ3):c.1045-1G>T rs1826416962
NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs) rs1822523749
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr) rs2130121430
NM_004519.4(KCNQ3):c.1120C>G (p.Pro374Ala)
NM_004519.4(KCNQ3):c.1123G>A (p.Ala375Thr) rs2130121106
NM_004519.4(KCNQ3):c.1262+1G>T
NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.777+1G>T
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp) rs118192250
NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met) rs2130128566
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) rs764822052
NM_005076.5(CNTN2):c.1240+1G>A rs113709347
NM_005076.5(CNTN2):c.1695+2T>C rs763392794
NM_005076.5(CNTN2):c.1696-2A>G
NM_005076.5(CNTN2):c.2126-1G>C rs2151198133
NM_005076.5(CNTN2):c.2197-2A>G
NM_005076.5(CNTN2):c.2544+1G>T
NM_005076.5(CNTN2):c.2731+1G>A rs1202358073
NM_006279.5(ST3GAL3):c.397+2T>C rs200255759
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+1G>A rs149614720
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.199-2A>G rs1391913873
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.865+1G>T
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) rs1554770243
NM_012281.3(KCND2):c.1215T>G (p.Ile405Met) rs1273708047
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699
NM_015192.4(PLCB1):c.1168-1G>A rs2123451785
NM_015192.4(PLCB1):c.1514-1G>A
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.1888+1G>A
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_015192.4(PLCB1):c.2208+1G>A rs1235234848
NM_015192.4(PLCB1):c.2656+1G>T
NM_015192.4(PLCB1):c.464+1G>A
NM_015192.4(PLCB1):c.465-2A>C rs2123290747
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015192.4(PLCB1):c.862+1G>A
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.605+1_605+2delinsAA rs2151934194
NM_016373.4(WWOX):c.605+2T>C
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.791+1G>T rs1164465811
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_021098.3(CACNA1H):c.1654C>T (p.Arg552Ter)
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs) rs747316677
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser) rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys) rs1556049714
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) rs2048669411
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr) rs2147318633
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn)
NM_145239.3(PRRT2):c.250del (p.Ala84fs) rs2142423353
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.341_342del (p.Val114fs) rs1900077598
NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer)
NM_145239.3(PRRT2):c.640delinsCC (p.Ala214fs)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941
NM_172107.4(KCNQ2):c.1027G>C (p.Ala343Pro)
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro) rs2145680256
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys) rs1371059392
NM_172107.4(KCNQ2):c.1055C>G (p.Ser352Trp)
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter) rs756360226
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs) rs2145637592
NM_172107.4(KCNQ2):c.1328_1350del (p.Val443fs)
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.1623_1631+5del rs2145547209
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro) rs118192234
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile) rs2145542277
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1763+4A>G rs2145541064
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
NM_172107.4(KCNQ2):c.2251T>G (p.Ser751Ala)
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro) rs2145921196
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.367del (p.Glu123fs) rs2145789218
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val) rs1381622639
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys) rs2081363302
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro) rs1339542565
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro) rs1057516089
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) rs1600767259
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.904G>T (p.Val302Phe)
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe) rs2145712758
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576
NM_173354.5(SIK1):c.1373del (p.Gln458fs)
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.107+1G>A rs1758364128
NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu) rs1760808499
NM_198904.4(GABRG2):c.259+1G>C rs2113298764
NM_198904.4(GABRG2):c.259+2T>A rs2113298770
NM_198904.4(GABRG2):c.259+2T>C rs2113298770
NM_198904.4(GABRG2):c.259+5G>T rs2113298784
NM_198904.4(GABRG2):c.260-1G>A rs2113309064
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.328-1G>A
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.496_498dup (p.Pro166dup) rs2113326854
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)
NM_198904.4(GABRG2):c.549-1G>T
NM_198904.4(GABRG2):c.631+1G>T
NM_198904.4(GABRG2):c.631+2T>C
NM_198904.4(GABRG2):c.632-2A>T rs2113370272
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter) rs1554098226
NM_198904.4(GABRG2):c.769+1G>A rs2113371247
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile) rs1764624249
NM_198904.4(GABRG2):c.916_922+8del rs2113599162
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr) rs1765175867
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly) rs796052510
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter) rs1569075471
Single allele

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