ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 430
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HGVS dbSNP
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter) rs797045325
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs) rs797045327
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1355del (p.Val452fs) rs797045329
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1544-1G>A rs797045331
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs) rs797045333
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter) rs797045337
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1947-1G>C rs794729231
NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter) rs797045342
NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs) rs797045343
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) rs797045346
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2173-2A>G rs797045349
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter) rs72554644
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs) rs797045352
NM_000052.7(ATP7A):c.2302del (p.Ala768fs) rs797045353
NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg) rs797045354
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs) rs797045355
NM_000052.7(ATP7A):c.2405_2406+1delinsT rs797045356
NM_000052.7(ATP7A):c.2498+2T>A rs797045357
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2499-1_2504dup rs797045358
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer) rs797045361
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del) rs797045366
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3124del (p.Val1042fs) rs797045368
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) rs797045369
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu) rs797045370
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter) rs797045372
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter) rs797045373
NM_000052.7(ATP7A):c.3294+1G>T rs797045374
NM_000052.7(ATP7A):c.3340del (p.Val1114fs) rs797045375
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) rs797045377
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter) rs797045378
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) rs797045379
NM_000052.7(ATP7A):c.3537del (p.Val1180fs) rs797045380
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu) rs797045382
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer) rs797045383
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs) rs797045384
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg) rs797045388
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs) rs797045389
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4011_4013TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter) rs797045399
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.876del (p.Ser293fs) rs797045400
NM_000252.2(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.2(MTM1):c.1053+1G>C rs587783751
NM_000252.2(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.2(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.2(MTM1):c.109C>T (p.Arg37Ter) rs587783753
NM_000252.2(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.2(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.2(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.2(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.2(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.2(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.2(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) rs797045711
NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.2(MTM1):c.1260+1G>A rs587783768
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.1261-1G>C rs587783770
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.2(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.2(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.2(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.2(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.2(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.1353+1G>A rs587783779
NM_000252.2(MTM1):c.1353+2T>C rs587783780
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1354-1G>A rs587783782
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.137-7T>G rs587783784
NM_000252.2(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.2(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.2(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.2(MTM1):c.141_144del (p.Glu48fs) rs587783791
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.2(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.2(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.2(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.2(MTM1):c.1464_1467del rs587783797
NM_000252.2(MTM1):c.1467+1G>A rs587783798
NM_000252.2(MTM1):c.1467+1G>T rs587783798
NM_000252.2(MTM1):c.1467+2T>A rs587783799
NM_000252.2(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.2(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.2(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.2(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.2(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000252.2(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.2(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.2(MTM1):c.231+1G>A rs587783810
NM_000252.2(MTM1):c.231+2T>G rs587783811
NM_000252.2(MTM1):c.232-1G>A rs587783812
NM_000252.2(MTM1):c.232-2A>C rs587783813
NM_000252.2(MTM1):c.232-3C>A rs587783814
NM_000252.2(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.2(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.2(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.2(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.2(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.2(MTM1):c.342+1G>A rs1557413092
NM_000252.2(MTM1):c.342+4A>G rs587783820
NM_000252.2(MTM1):c.342_342+4delAGTAA rs797045717
NM_000252.2(MTM1):c.343-2A>G rs587783821
NM_000252.2(MTM1):c.395_396AT[1] (p.Met133fs) rs587783822
NM_000252.2(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.2(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.2(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.2(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.2(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.2(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.2(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.2(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.2(MTM1):c.528+1G>T rs587783830
NM_000252.2(MTM1):c.529-2A>G rs587783831
NM_000252.2(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.2(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.2(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.2(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.2(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.2(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.2(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.2(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.2(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.2(MTM1):c.63+1G>A rs587783843
NM_000252.2(MTM1):c.63+3A>T rs587783844
NM_000252.2(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.2(MTM1):c.64-1G>A rs587783846
NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.678+1G>A rs587783849
NM_000252.2(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.2(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.2(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.2(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.2(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.2(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.2(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.867+1_867+2insGG rs797045721
NM_000252.2(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.2(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del) rs587783862
NM_000252.2(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.2(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.2(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.2(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.2(MTM1):c.96dup (p.Glu33Ter) rs797045724
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) rs797045646
NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) rs587784398
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) rs587784399
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) rs587784400
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) rs587784401
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) rs587784402
NM_001110792.1(MECP2):c.1193_*116del421 rs1557134720
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001272071.2(AP1S2):c.281del (p.Phe94fs) rs1555904182
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001931.4(DLAT):c.848_849del (p.Asp283Glyfs) rs782704553
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002547.3(OPHN1):c.2159-4C>T rs587784233
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002547.3(OPHN1):c.702+11A>C rs375325266
NM_003159.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_003159.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_003159.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_003159.2(CDKL5):c.146-1G>A rs587783399
NM_003159.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_003159.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_003159.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.65dupG (p.Ala23Serfs) rs267608420
NM_003159.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_003159.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003588.3(CUL4B):c.2687G>A (p.Arg896Gln) rs1556173896
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) rs312262858
NM_003688.3(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_003688.3(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_003688.3(CASK):c.1644_1645del (p.Val549fs) rs587783357
NM_003688.3(CASK):c.1864G>T (p.Glu622Ter) rs1555980033
NM_003688.3(CASK):c.1981del (p.Leu661fs) rs797045431
NM_003688.3(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_003688.3(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_003688.3(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_003688.3(CASK):c.20_27del (p.Leu7fs) rs587783362
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.2377C>T (p.Gln793Ter) rs749742837
NM_003688.3(CASK):c.2427G>A (p.Ala809=) rs141158465
NM_003688.3(CASK):c.2470C>T (p.Gln824Ter) rs587783364
NM_003688.3(CASK):c.2529_2530AG[1] (p.Glu844fs) rs797045433
NM_003688.3(CASK):c.2534_2535del (p.Phe845fs) rs1555972628
NM_003688.3(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_003688.3(CASK):c.430-2A>T rs587783366
NM_003688.3(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_003688.3(CASK):c.708+1G>A rs587783368
NM_003688.3(CASK):c.764G>A (p.Arg255His) rs587783369
NM_003688.3(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_003688.3(CASK):c.880C>T (p.Gln294Ter) rs587783371
NM_004187.4(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.4(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004429.4(EFNB1):c.128+2T>A rs1556096780
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs) rs1556107925
NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004992.3(MECP2):c.1007_1194del (p.Leu336fs) rs1557135418
NM_004992.3(MECP2):c.1066_1166del (p.Ser357fs) rs1557135664
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1152_1195del (p.Pro385fs) rs267608372
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1163_1188del (p.Pro388fs) rs267608600
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1170_1207del (p.Pro390_Pro391insTer) rs267608609
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter) rs61753979
NM_004992.3(MECP2):c.146C>G (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.194C>G (p.Ser65Ter) rs61754437
NM_004992.3(MECP2):c.215del (p.Pro72fs) rs61754441
NM_004992.3(MECP2):c.224C>T (p.Pro75Leu) rs267608440
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.47_57del (p.Gln16fs) rs797045694
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.56dup (p.Leu21fs) rs267608417
NM_004992.3(MECP2):c.665_671dup (p.Met224fs) rs797045695
NM_004992.3(MECP2):c.673C>A (p.Pro225Thr) rs267608513
NM_004992.3(MECP2):c.686C>A (p.Ser229Ter) rs61749739
NM_004992.3(MECP2):c.689_756del (p.Pro230fs) rs1557136493
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.736_743delinsGTG (p.Met246fs) rs267608520
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.755del (p.Gly252fs) rs61750232
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.834_939del (p.Ala279fs) rs1557136146
NM_004992.3(MECP2):c.898_1166del (p.Val300fs) rs1557135666
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.943_1140del198ins6
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs) rs587783629
NM_005249.5(FOXG1):c.170_179del (p.His57fs) rs587783631
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.298del (p.Gln100fs) rs587783636
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys) rs121913678
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs) rs1557045581
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.-53A>C rs587784385
NM_006517.5(SLC16A2):c.1026+1G>T rs1555989729
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) rs587784382
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_139058.2(ARX):c.1120-82_1469dup
NM_139058.2(ARX):c.304_305ins21 (p.?)
NM_139058.3(ARX):c.1096del (p.Asp366fs) rs797045289
NM_139058.3(ARX):c.1121T>A (p.Val374Asp) rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) rs587783184
NM_139058.3(ARX):c.1141del (p.Ala381fs) rs1556049694
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) rs797045290
NM_139058.3(ARX):c.1337dup (p.Pro447fs) rs797045291
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) rs587783189
NM_139058.3(ARX):c.1449-82_1469dup rs1556046904
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.306_308GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.306_308GGC[18] (p.Ala108_Ala115dup) rs387906492
NM_139058.3(ARX):c.335_368del (p.Ala112fs) rs587783199
NM_139058.3(ARX):c.409dup (p.Glu137fs) rs797045298
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) rs1556056131
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) rs797045303
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.995G>T (p.Arg332Leu) rs111033612
NM_178152.3(DCX):c.355_356del (p.Leu119fs) rs1556404991
NM_178152.3(DCX):c.544G>T (p.Val182Phe) rs1556401951
NM_178152.3(DCX):c.682_683CT[1] (p.Tyr229fs) rs1556401744
NM_178152.3(DCX):c.705+1del rs1556401725

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