ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by OMIM

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 753
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HGVS dbSNP
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
AFF2, 121- to 145-KB DEL
AJ298105.1:g.61273_107768delins6086
ARX, 32-BP DEL, NT420
ARX, EX1-2DEL
ATP7A, EX3-4 DEL
ATRX, IVSAS, T-A, -10
BCOR, 1-BP DEL, 3286G
BCOR, 1-BP DEL, 3881A
BCOR, 2-BP DEL, 2488AG
BCOR, 60-KB DEL
BCOR, EX9-15DEL
CDKL5, 1-BP DEL, 183T
CDKL5, 2-BP DEL, 2636CT
CDKL5, 2-BP INS, 903GA
CDKL5, 4-BP DEL, 166GAAA
CDKL5, IVS6AS, G-T, -1
CDKL5, IVSAS13, G-A, -1
DCX, IVS4, G-A, +1
DLAT, 3-BP DEL, 361GAA
EFNB1, EX2-5DEL
FMR1, (CGG)n EXPANSION
FOXG1, 1-BP DEL, 969C
FOXG1, 1-BP DUP, 460G
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
GRIA3, 0.4-MB DEL
HCCS, 8.6-KB DEL
HPRT CHERMSIDE
HPRT CHICAGO
HPRT CONNERSVILLE
HPRT COORPAROO
HPRT MICHIGAN
HPRT, 1-BP DEL, TTA-TA
HPRT, 1-BP DEL, TTG-TG
HPRT, 13-BP DEL, 5-PRIME UTR
HPRT, 2-BP DEL, GT
HPRT, 40-BP DEL
HPRT, DEL
HPRT, EX2-3DUP, IVS1DEL
HPRT, EX2DEL
HPRT, EX4-9DEL
HPRT, EX9DEL
HPRT, INV/DEL, EX6-9
HPRT,1-BP INS, 207G
IGBP1, -57delT and -55T-A, 5-PRIME UTR
IKBKG, 10-BP INS, NT127
IKBKG, EXON 4-10 DEL
KDM5C, 1-BP INS, 202C
L1CAM, 1.3-KB DUP
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
LAS1L, ALA269GLY
LAS1L, ARG415TRP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
NC_000023.11:g.(68839265_68839268)_(68847656_68847659)del
NC_000023.11:g.(?_149478764)_(149505354_?)del
NC_000023.11:g.(?_40051246)_(40075180_?)del
NDP, 1-BP DEL
NEXMIF, 70-KB DUP
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_008880.1:g.127856_129265del1410
NG_008960.1:g.224486-?_245539+?del
NG_012329.1:g.(38034_38038)_(46028_46032)del
NG_013368.1:g.5604_20276del
NG_016754.1:g.5000-?_5105+?del
NM_000033.3(ABCD1):c.-18_8del (p.Met1_Gly66del) rs387906497
NM_000033.3(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.3(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs) rs387906494
NM_000033.3(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.3(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.3(ABCD1):c.1552del (p.Arg518Glyfs) rs387906495
NM_000033.3(ABCD1):c.1634+1G>A
NM_000033.3(ABCD1):c.1635-2A>G
NM_000033.3(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.3(ABCD1):c.1865+1G>A
NM_000033.3(ABCD1):c.1866-10G>A rs398123108
NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.3(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000052.6(ATP7A):c.1707+1G>A
NM_000052.6(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.6(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.6(ATP7A):c.408_415del (p.Asn137Lysfs)
NM_000052.6(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000108.3(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.4(DLD):c.104dupA (p.Tyr35Terfs) rs753234219
NM_000108.4(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.4(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.4(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.4(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.4(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.4(DLD):c.1463C>T (p.Pro488Leu) rs121964988
NM_000108.4(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.4(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.4(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.875+1G>A
NM_000166.5(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.5(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.5(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.5(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.5(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.5(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.5(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.5(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000194.2(HPRT1):c.-707_27+2236del
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) rs137852480
NM_000194.2(HPRT1):c.134G>A (p.Arg45Lys) rs137852491
NM_000194.2(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) rs137852494
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) rs137852500
NM_000194.2(HPRT1):c.193C>T (p.Leu65Phe) rs137852506
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) rs137852481
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) rs137852485
NM_000194.2(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) rs137852483
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) rs137852477
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.428T>A (p.Met143Lys) rs137852496
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) rs137852505
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) rs137852499
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) rs137852498
NM_000194.2(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000194.2(HPRT1):c.527C>T (p.Pro176Leu) rs137852493
NM_000194.2(HPRT1):c.529G>T (p.Asp177Tyr) rs137852492
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) rs267606863
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) rs137852504
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) rs137852486
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) rs137852479
NM_000194.2(HPRT1):c.610-4_610-2delATAinsTTT rs672601245
NM_000194.2(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) rs387906428
NM_000194.3(HPRT1):c.28-2A>T
NM_000194.3(HPRT1):c.532+5G>A
NM_000194.3(HPRT1):c.609+5G>A
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.7(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.7(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.7(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.7(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.7(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.7(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.7(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.7(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.7(IDS):c.509_510del (p.Thr170Metfs) rs483352904
NM_000202.7(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.7(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.3(MAOA):c.749_750insT (p.Ser251Lysfs) rs796065311
NM_000240.3(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.3(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.141_144delAGAA (p.Glu48Leufs) rs587783791
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.605del (p.Leu202Trpfs) rs672601325
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000266.3(NDP):c.131A>G (p.Tyr44Cys) rs104894870
NM_000266.3(NDP):c.134T>A (p.Val45Glu) rs137852221
NM_000266.3(NDP):c.179T>A (p.Val60Glu) rs104894869
NM_000266.3(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.3(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000266.3(NDP):c.206G>C (p.Cys69Ser) rs104894872
NM_000266.3(NDP):c.218C>A (p.Ser73Ter) rs104894882
NM_000266.3(NDP):c.224C>G (p.Ser75Cys) rs104894868
NM_000266.3(NDP):c.269G>C (p.Arg90Pro) rs104894867
NM_000266.3(NDP):c.287G>A (p.Cys96Tyr) rs104894871
NM_000266.3(NDP):c.288C>G (p.Cys96Trp) rs104894877
NM_000266.3(NDP):c.302C>T (p.Ser101Phe) rs104894883
NM_000266.3(NDP):c.313G>A (p.Ala105Thr) rs104894875
NM_000266.3(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.3(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000276.3(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.3(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.3(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000284.3(PDHA1):c.*79_*90dup rs1555935690
NM_000284.3(PDHA1):c.1073_1092del (p.Glu358Glyfs) rs606231187
NM_000284.3(PDHA1):c.1074_1109dup (p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleTyrSer) rs606231191
NM_000284.3(PDHA1):c.1142_1145dupATCA (p.Trp383Serfs) rs606231189
NM_000284.3(PDHA1):c.1159_1160del (p.Lys387Valfs) rs606231186
NM_000284.3(PDHA1):c.1167_1170del (p.Ser390Lysfs) rs606231184
NM_000284.3(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.3(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.3(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.3(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.3(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.3(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.3(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.3(PDHA1):c.861_862insT (p.Arg288Serfs) rs606231190
NM_000284.3(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.3(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.3(PDHA1):c.917_918insTAGTTACCGTACACGAGAAGA (p.Glu305_Glu306insAspSerTyrArgThrArgGlu) rs606231188
NM_000284.3(PDHA1):c.934_940del (p.Ser312Valfs) rs606231185
NM_000284.3(PDHA1):c.937_939del (p.Lys313del) rs137853251
NM_000284.3(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000291.3(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.3(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.3(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.3(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.3(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.3(PGK1):c.574_576del (p.Lys192del) rs431905502
NM_000291.3(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.3(PGK1):c.756+5G>A rs431905503
NM_000291.3(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000291.3(PGK1):c.796_798delGTCinsATG (p.Val266Met) rs431905501
NM_000291.3(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.3(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.3(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.3(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_000425.4(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_000425.4(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_000425.4(L1CAM):c.2432-19A>C rs879253713
NM_000425.4(L1CAM):c.3458-1G>C rs879253724
NM_000425.4(L1CAM):c.3489_3490delTG (p.Glu1164Glyfs) rs879253714
NM_000425.4(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_000425.4(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_000425.4(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_000425.4(L1CAM):c.630C>A (p.His210Gln) rs28933683
NM_000425.4(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_000425.4(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_000425.4(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_000489.4(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.4(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.4(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.4(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.4(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.4(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.4(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.4(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu)
NM_000531.5(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.5(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.5(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.5(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.5(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.5(OTC):c.217-1G>A rs72554327
NM_000531.5(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.5(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.5(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.5(OTC):c.332T>C (p.Leu111Pro) rs1800324
NM_000531.5(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.5(OTC):c.387-2A>T rs66556380
NM_000531.5(OTC):c.403delG (p.Ala135Glnfs) rs72556255
NM_000531.5(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.5(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.5(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.5(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.5(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.5(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.5(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.5(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.5(OTC):c.717+2T>C rs72558431
NM_000531.5(OTC):c.717+3A>G rs72558432
NM_000531.5(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.5(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.5(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000533.3(PLP1):c.453+2T>C rs1556267388
NM_000925.3(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.3(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001005360.2(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008222.2(ZDHHC9):c.167+5G>C rs606231183
NM_001008222.2(ZDHHC9):c.172_175del (p.Arg58Thrfs) rs606231182
NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_001008222.2(ZDHHC9):c.448C>T (p.Pro150Ser) rs137852215
NM_001008537.2(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.2(NEXMIF):c.1582delA (p.Arg528Glufs) rs727503977
NM_001008537.2(NEXMIF):c.183del (p.Arg62Glufs) rs397518479
NM_001008537.2(NEXMIF):c.2042del (p.Gly681Valfs) rs1556016555
NM_001008537.2(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.2(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200Ilefs) rs397518478
NM_001015877.1(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.1(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.1(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_001015877.1(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.1(PHF6):c.686A>G (p.His229Arg) rs104894918
NM_001015877.1(PHF6):c.700A>G (p.Lys234Glu) rs104894917
NM_001015877.1(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.1(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001032383.1(PQBP1):c.461_462del (p.Glu154Alafs) rs606231193
NM_001032383.1(PQBP1):c.461_462dup (p.Arg155Serfs) rs606231193
NM_001032383.1(PQBP1):c.547_569del (p.Glu183Glnfs) rs606231197
NM_001032393.2(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) rs28935476
NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) rs122461163
NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) rs62626305
NM_001039590.2(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039590.2(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039590.2(USP9X):c.2644_2645insA (p.Arg882Glnfs) rs869025590
NM_001039590.2(USP9X):c.3028_3148del121 rs869025589
NM_001039590.2(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001042537.1(SLC9A6):c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) rs398122849
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) rs398123003
NM_001042537.1(SLC9A6):c.603+3_603+4delAAinsCC rs730882187
NM_001042537.1(SLC9A6):c.608_609del (p.His203Leufs) rs730882188
NM_001081550.1(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
NM_001081550.1(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.1(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.1(THOC2):c.937C>T (p.Leu313Phe) rs797045019
NM_001097642.2(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_001097642.2(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_001097642.2(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_001097642.2(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_001097642.2(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_001097642.2(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_001110556.1(FLNA):c.3476A>C (p.Asp1159Ala) rs28935471
NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.1(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.1(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.1(FLNA):c.607G>T (p.Asp203Tyr) rs137853314
NM_001110556.1(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.1(FLNA):c.629G>T (p.Cys210Phe) rs137853318
NM_001110556.1(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110792.1(MECP2):c.23_27dupCGCCG (p.Ser10Argfs) rs786205038
NM_001110792.1(MECP2):c.30delCinsGA (p.Ser10Argfs) rs786205040
NM_001110792.1(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.1(MECP2):c.802_815dup (p.Asp272Glufs) rs267608524
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001122606.1(LAMP2):c.14del (p.Arg5Profs)
NM_001122606.1(LAMP2):c.36_42del (p.Gly13Phefs)
NM_001122606.1(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_001122606.1(LAMP2):c.883dup (p.Tyr295Leufs)
NM_001122606.1(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_001123383.1(BCOR):c.2926C>T (p.Arg976Ter) rs121434619
NM_001123383.1(BCOR):c.4072-1G>T
NM_001123385.1(BCOR):c.4304_4308del (p.Pro1435Leufs) rs730880034
NM_001128834.2(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_001128834.2(PLP1):c.169G>T (p.Asp57Tyr) rs132630296
NM_001128834.2(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_001128834.2(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_001128834.2(PLP1):c.453+4A>G
NM_001128834.2(PLP1):c.467C>T (p.Thr156Ile) rs132630280
NM_001128834.2(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_001128834.2(PLP1):c.544A>C (p.Thr182Pro) rs132630282
NM_001128834.2(PLP1):c.607G>C (p.Asp203His) rs132630284
NM_001128834.2(PLP1):c.646C>T (p.Pro216Ser) rs132630278
NM_001128834.2(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_001128834.2(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_001128834.2(PLP1):c.762+3G>T
NM_001145408.1(NONO):c.1093C>T (p.Arg365Ter) rs869025345
NM_001145408.1(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_001145408.1(NONO):c.1171G>T (p.Gly391Cys) rs1114167441
NM_001145408.1(NONO):c.1394dupC (p.Asn466Lysfs) rs869025344
NM_001169122.1(AFF2):c.-460_-458GCC(6_25) rs193922937
NM_001173454.1(PDHA1):c.1247G>A (p.Arg416His) rs137853250
NM_001173479.1(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001184880.1(PCDH19):c.1091dupC (p.Tyr366Leufs) rs758946412
NM_001184880.1(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.1(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.1(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.1(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.1(PCDH19):c.2030dup (p.Leu677Phefs)
NM_001184880.1(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001193416.2(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001289.5(CLIC2):c.303C>G (p.His101Gln) rs398122917
NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001415.3(EIF2S3):c.1394_1397delTCAA (p.Ile465Serfs) rs886040857
NM_001415.3(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001415.3(EIF2S3):c.665T>C (p.Ile222Thr) rs886040855
NM_001415.3(EIF2S3):c.777T>G (p.Ile259Met) rs886040856
NM_001866.2(COX7B):c.196del (p.Leu66Cysfs) rs397514583
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) rs397514585
NM_001866.3(COX7B):c.41-2A>G rs397514584
NM_001931.4(DLAT):c.1728C>A (p.Phe576Leu) rs119103240
NM_001931.4(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_002024.5(FMR1):c.373del (p.Thr125Leufs)
NM_002024.5(FMR1):c.52-1_52delinsTA rs1557176576
NM_002024.5(FMR1):c.80C>A (p.Ser27Ter)
NM_002024.5(FMR1):c.911T>A (p.Ile304Asn) rs121434622
NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.2(LAMP2):c.741+1G>A
NM_002294.2(LAMP2):c.864+5G>C
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002495.2(NDUFS4):c.291delG (p.Trp97Terfs) rs121908985
NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.3(NDUFS4):c.44G>A (p.Trp15Ter) rs104893899
NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs) rs587776949
NM_002495.3(NDUFS4):c.466_470dup (p.Lys158Serfs)
NM_002495.3(NDUFS4):c.99-1G>A rs376281345
NM_002547.2(OPHN1):c.1579delA (p.Ile527Serfs)
NM_002547.2(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.2(OPHN1):c.644_645delTG (p.Val215Glyfs)
NM_002547.2(OPHN1):c.745_752dup (p.Lys251Asnfs)
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.154G>C (p.Asp52His) rs137852542
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly) rs587777150
NM_002764.3(PRPS1):c.385C>A (p.Leu129Ile) rs137852543
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.424G>C (p.Val142Leu) rs398122855
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.3(PRPS1):c.547G>C (p.Asp183His) rs137852541
NM_002764.3(PRPS1):c.569C>T (p.Ala190Val) rs137852544
NM_002764.3(PRPS1):c.579C>G (p.His193Gln) rs137852545
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_003159.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_003159.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_003159.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_003159.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_003159.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_003159.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_003159.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_003159.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003336.3(UBE2A):c.32G>A (p.Arg11Gln) rs387906728
NM_003336.3(UBE2A):c.382C>T (p.Gln128Ter) rs104894952
NM_003413.3(ZIC3):c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) rs398122850
NM_003477.2(PDHX):c.1024-1G>A rs724159830
NM_003477.2(PDHX):c.1183-3088_1247+760del
NM_003477.2(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725
NM_003477.2(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.2(PDHX):c.620del (p.Pro207Leufs) rs724159979
NM_003477.2(PDHX):c.641+1G>A rs724159829
NM_003477.2(PDHX):c.742C>T (p.Gln248Ter) rs113309941
NM_003477.2(PDHX):c.87_90del (p.Lys30Glyfs) rs724159828
NM_003477.2(PDHX):c.965_1023del (p.Asp322Alafs) rs1554989996
NM_003491.3(NAA10):c.471+2T>A rs587776457
NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) rs121434616
NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) rs869320682
NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) rs121434615
NM_003588.3(CUL4B):c.1906+1G>T rs797044862
NM_003588.3(CUL4B):c.901-2A>G rs786200913
NM_003611.2(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.2(OFD1):c.1887_1888insAT (p.Asn630Ilefs) rs312262886
NM_003611.2(OFD1):c.294_312delTGGTTTGGCAAAAGAAAAG (p.Ser98Argfs) rs312262821
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.2(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.2123_2126dup (p.Asn711Lysfs) rs312262890
NM_003639.4(IKBKG):c.1110dup (p.Ala371Argfs)
NM_003639.4(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) rs137853321
NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter) rs137853323
NM_003688.3(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_003688.3(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_003688.3(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_003688.3(CASK):c.915G>A (p.Lys305=) rs387906499
NM_003916.4(AP1S2):c.106C>T (p.Gln36Ter) rs104894739
NM_003916.4(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_003916.4(AP1S2):c.180-5_180-2delTACA rs587776738
NM_003916.4(AP1S2):c.226G>T (p.Glu76Ter) rs137852213
NM_003916.4(AP1S2):c.288+5G>A rs587776739
NM_003916.4(AP1S2):c.426+1G>T rs587777542
NM_004085.3(TIMM8A):c.116del (p.Met39Argfs) rs869320664
NM_004085.3(TIMM8A):c.127del (p.Cys43Valfs) rs869320667
NM_004085.3(TIMM8A):c.133-23A>C rs869320666
NM_004085.3(TIMM8A):c.148_157del (p.Lys50Glnfs) rs869320733
NM_004085.3(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004085.3(TIMM8A):c.238C>T (p.Arg80Ter) rs1054894
NM_004085.3(TIMM8A):c.70G>T (p.Glu24Ter) rs111033631
NM_004085.3(TIMM8A):c.73del (p.Val25Terfs) rs869320665
NM_004187.3(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.3(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.3(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729
NM_004187.3(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.3(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.3(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.3(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238
NM_004187.3(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004208.3(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) rs104894802
NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) rs104894803
NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) rs104894796
NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) rs28936069
NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) rs28936070
NM_004429.4(EFNB1):c.472A>G (p.Met158Val) rs28936071
NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) rs28935170
NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) rs587777109
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.3(GPC3):c.1292+1G>T rs869025182
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.3(GPC3):c.194_206del (p.Cys65Serfs) rs869025181
NM_004484.3(GPC3):c.337+1G>A rs869025183
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) rs104894854
NM_004493.2(HSD17B10):c.574C>A (p.Arg192=) rs122462164
NM_004493.2(HSD17B10):c.634A>G (p.Lys212Glu) rs886041974
NM_004586.2(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.2(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.2(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.2(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.2(RPS6KA3):c.326-1G>C rs587776755
NM_004586.2(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.2(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.2(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.2(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
NM_004595.4(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.4(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.4(SMS):c.329+5G>A rs397515381
NM_004595.4(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.4(SMS):c.983A>G (p.Tyr328Cys) rs397515553
NM_004606.4(TAF1):c.1786C>T (p.Pro596Ser) rs864321630
NM_004606.4(TAF1):c.2419T>C (p.Cys807Arg) rs864321628
NM_004606.4(TAF1):c.2926G>C (p.Asp976His) rs864321631
NM_004606.4(TAF1):c.3736C>T (p.Arg1246Trp) rs864321629
NM_004606.4(TAF1):c.4010T>C (p.Ile1337Thr) rs864321627
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) rs104894864
NM_004992.3(MECP2):c.167_168delCC (p.Pro56Argfs) rs267608434
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
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.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.464T>C (p.Phe155Ser) rs28934905
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.488_489delGG (p.Gly163Glufs) rs267608488
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.710delG (p.Gly237Valfs) rs61749743
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) rs61750240
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449
NM_005120.2(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.2(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.2(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.2(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.2(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005249.4(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.4(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.4(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.4(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.4(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005333.4(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.4(HCCS):c.649C>T (p.Arg217Cys) rs121917889
NM_005391.4(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_005629.3(SLC6A8):c.1011C>G (p.Cys337Trp) rs122453116
NM_005629.3(SLC6A8):c.1141G>C (p.Gly381Arg) rs122453114
NM_005629.3(SLC6A8):c.1222_1224delTTC (p.Phe408del) rs80338740
NM_005629.3(SLC6A8):c.1473C>G (p.Cys491Trp) rs122453118
NM_005629.3(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.3(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val) rs122453117
NM_005629.4(SLC6A8):c.263-2A>G
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Terfs)
NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005710.2(PQBP1):c.459_462delAGAG (p.Arg153Serfs) rs606231193
NM_005710.2(PQBP1):c.640dupC (p.Arg214Profs) rs606231196
NM_005765.2(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.2(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_006013.4(RPL10):c.191C>T (p.Ala64Val) rs1131692042
NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006013.4(RPL10):c.481G>A (p.Gly161Ser) rs1131692041
NM_006044.3(HDAC6):c.*282A>T rs398122390
NM_006359.2(SLC9A6):c.1402C>T (p.Arg468Ter) rs122461162
NM_006359.2(SLC9A6):c.430-9_430-5delTTTTA rs796053290
NM_006359.2(SLC9A6):c.764_769del (p.Glu255_Ser256del) rs886037619
NM_006517.4(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.4(SLC16A2):c.1121C>A (p.Ser374Ter) rs104894940
NM_006517.4(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006517.4(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.4(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.4(SLC16A2):c.1612delC (p.Pro538Glnfs) rs113994166
NM_006517.4(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
NM_006859.3(LIAS):c.475_477delGAGinsAAA (p.Glu159Lys) rs869320760
NM_006859.3(LIAS):c.645T>A (p.Asp215Glu) rs869312808
NM_006859.3(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_007325.4(GRIA3):c.1888G>C (p.Gly630Arg) rs587777361
NM_007325.4(GRIA3):c.1891C>A (p.Arg631Ser) rs137852351
NM_007325.4(GRIA3):c.2117T>C (p.Met706Thr) rs137852352
NM_007325.4(GRIA3):c.2497G>A (p.Gly833Arg) rs137852350
NM_014165.3(NDUFAF4):c.194T>C (p.Leu65Pro) rs63751061
NM_014467.2(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364
NM_014927.4(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_014927.4(CNKSR2):c.453dupA (p.Asp152Argfs) rs606231282
NM_015107.2(PHF8):c.529A>T (p.Lys177Ter) rs121918523
NM_015107.2(PHF8):c.631C>T (p.Arg211Ter) rs121918522
NM_015107.2(PHF8):c.836T>C (p.Phe279Ser) rs121918524
NM_015185.2(ARHGEF9):c.164G>C (p.Gly55Ala) rs121918361
NM_015365.2(AMMECR1):c.502C>T (p.Arg168Ter) rs1057519338
NM_015365.2(AMMECR1):c.530G>A (p.Gly177Asp) rs1057519337
NM_015884.3(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.3(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.3(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.3(MBTPS2):c.671-9T>G rs587777305
NM_015884.3(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.3(MBTPS2):c.680A>T (p.His227Leu) rs122468176
NM_017745.5(BCOR):c.254C>T (p.Pro85Leu) rs121434618
NM_017745.5(BCOR):c.2613del (p.Phe871Leufs) rs730880013
NM_018444.3(PDP1):c.277G>T (p.Glu93Ter) rs267606938
NM_018444.3(PDP1):c.851_853delTTC (p.Leu284del) rs1554572756
NM_018684.3(ZC4H2):c.187G>C (p.Val63Leu) rs398122938
NM_018684.3(ZC4H2):c.197T>A (p.Leu66His) rs1057520297
NM_018684.3(ZC4H2):c.225+5G>A rs1057520298
NM_018684.3(ZC4H2):c.53G>A (p.Arg18Lys) rs1057520299
NM_018684.3(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_018684.3(ZC4H2):c.601C>T (p.Pro201Ser) rs398122939
NM_018684.3(ZC4H2):c.637C>T (p.Arg213Trp) rs879255236
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_019056.6(NDUFB11):c.402delG (p.Arg134Serfs) rs876657384
NM_019597.4(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.4(HNRNPH2):c.626C>T (p.Pro209Leu) rs1555988417
NM_020717.3(SHROOM4):c.3266C>T (p.Ser1089Leu) rs121434620
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_031407.4(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031407.6(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.6(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.6(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.6(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527
NM_031407.6(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.6(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.6(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln)
NM_031407.7(HUWE1):c.145-2A>G
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_032458.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.2(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_139058.2(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.2(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.2(ARX):c.1187dup (p.Gly397Trpfs)
NM_139058.2(ARX):c.1372del (p.Ala458Argfs) rs587783187
NM_139058.2(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.2(ARX):c.428_451dup24 (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla) rs387906493
NM_139058.2(ARX):c.617del (p.Gly206Alafs) rs587783202
NM_139058.2(ARX):c.790delC (p.Arg264Glyfs) rs886043552
NM_139058.2(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.2(ARX):c.998C>A (p.Thr333Asn) rs104894745
NM_145331.2(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
NM_145331.2(MAP3K7):c.208G>C (p.Glu70Gln) rs886039231
NM_145331.2(MAP3K7):c.299T>A (p.Val100Glu) rs886039232
NM_145331.2(MAP3K7):c.502G>C (p.Gly168Arg) rs886039233
NM_171998.3(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.3(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_178151.2(DCX):c.574C>T (p.Arg192Trp) rs104894780
NM_178151.2(DCX):c.587G>A (p.Arg196His) rs56030372
NM_178151.2(DCX):c.684_685del (p.Tyr229Hisfs) rs1556401744
NM_178152.2(DCX):c.139A>C (p.Ser47Arg) rs104894783
NM_178152.2(DCX):c.176G>T (p.Arg59Leu) rs122457137
NM_178152.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_178152.2(DCX):c.211G>T (p.Ala71Ser) rs104894786
NM_178152.2(DCX):c.233G>A (p.Arg78His) rs104894784
NM_178152.2(DCX):c.265C>G (p.Arg89Gly) rs104894785
NM_178152.2(DCX):c.34_35dup (p.Asp12Glufs)
NM_178152.2(DCX):c.373T>C (p.Tyr125His) rs104894781
NM_178152.2(DCX):c.608C>G (p.Thr203Arg) rs104894782
NM_178152.2(DCX):c.691_692del (p.Leu231Glyfs)
NM_198270.3(NHS):c.1117C>T (p.Arg373Ter) rs132630322
NM_198270.3(NHS):c.115C>T (p.Gln39Ter) rs104894881
NM_198270.3(NHS):c.2387dup (p.Ser797Phefs) rs786205255
NM_198270.3(NHS):c.3459del (p.Leu1154Cysfs) rs786205256
NM_198270.3(NHS):c.718dup (p.Glu240Glyfs) rs1556030707
NM_198270.3(NHS):c.852del (p.Ser285Profs) rs786205677
NM_198270.3(NHS):c.853-2A>G rs786205257
NM_203473.2(PORCN):c.1094G>A (p.Arg365Gln) rs387906723
NM_203473.2(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_203473.2(PORCN):c.222G>A (p.Trp74Ter) rs137852219
NM_203475.2(PORCN):c.1059_1071dup (p.Thr358Profs) rs587776737
NM_203475.2(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NR_023343.1(RNU4ATAC):n.118T>C rs863225423
NR_023343.1(RNU4ATAC):n.13C>T rs559979281
NR_023343.1(RNU4ATAC):n.16G>A rs750325275
NR_023343.1(RNU4ATAC):n.37G>A rs756026847
NR_023343.1(RNU4ATAC):n.48G>A rs863225422
NR_023343.1(RNU4ATAC):n.51G>A rs188343279
NR_023343.1(RNU4ATAC):n.8C>T rs370715569
OCRL, 112-BP DEL
OPHN1, 17.6-KB DEL
OTC, DEL
PCDH19, 5-BP DUP, NT1036
PDHA1, 13-BP INS, EX10
PHF6, 1-BP INS, 27A
PHF6, IVS2AS, A-G, -8
PHF8, 12-BP DEL
PLP1, DEL
PLP1, DUP
RBMX, 23-BP DEL, EX9
RPS6KA3, 1-BP DEL, 2144C
RPS6KA3, 187-BP DEL, NT406
RPS6KA3, 2-BP DEL, 451AG
RPS6KA3, 3-BP DEL, 1428TAT
RPS6KA3, 7.2-KB DEL
RPS6KA3, DUP EXONS 17-20, NT1959
RPS6KA3, IVS12, A-G, -2
RPS6KA3, IVS3, L1 INS, -8
RPS6KA3, IVS5, A-G, -11
RPS6KA3, IVS6, A-G, +3
SLC16A2, 1-BP DEL, 1212T
SLC16A2, EX1DEL
SLC6A8, 3-BP DEL, 1006AAC
SOX3, 33-BP DUP, NT711-743
TIMM8A, DEL
UBE2A, GLY23ARG
UPF3B, 2-BP DEL, 867AG
UPF3B, 4-BP DEL, 674GAAA
m.11777C>A rs28384199
m.4810G>A rs267606888
m.5132_5133delAA rs199476116
nsv513796

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