ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_133443.4(GPT2):c.286G>A (p.Gly96Arg) rs778445616 0.00014
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn) rs199583537 0.00008
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly) rs139719918 0.00006
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00005
NM_006765.4(TUSC3):c.714A>G (p.Ile238Met) rs773936260 0.00005
NM_006946.4(SPTBN2):c.4444C>T (p.Arg1482Trp) rs373270554 0.00004
NM_177939.3(P4HTM):c.1238C>T (p.Pro413Leu) rs757914897 0.00003
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) rs375876694 0.00002
NM_002860.4(ALDH18A1):c.2186A>T (p.Asp729Val) rs770249022 0.00002
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys) rs761934754 0.00002
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr) rs758546717 0.00002
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608 0.00001
NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val) rs1021186046 0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) rs756802179 0.00001
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter) rs200870836 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser) rs779203584 0.00001
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala) rs782072593 0.00001
GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072)
GRCh37/hg19 Xq24(chrX:119660616-119681095)x1
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
GRCh38/hg38 Xq12(chrX:68203479-68224263)x2
NC_000001.11:g.153812287_153823987del
NC_000020.11:g.(?_508451)_(508551_?)del
NC_000021.9:g.33542069_33544417del
NC_000023.10:g.11600773_12249902del649130
NC_000023.10:g.11633731_11797224del163494
NC_000023.10:g.[(?_29619835)_(29843303_?);(?_30646799)_(30848980_?)dup]
NM_000240.4(MAOA):c.233dup (p.Leu78fs) rs2033551253
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter) rs2151660977
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000521.4:c.1_669del
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro) rs1653241392
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro) rs2060536584
NM_000814.6(GABRB3):c.674T>G (p.Phe225Cys) rs1890742227
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser) rs1555050158
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) rs1555050165
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly) rs1555050171
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val) rs1555050174
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro) rs765556214
NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile) rs1950069464
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) rs398122823
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter) rs2151652750
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter) rs1173681603
NM_001005273.3(CHD3):c.1369G>T (p.Glu457Ter) rs1567844992
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.3(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln) rs1567856331
NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del) rs1567859975
NM_001005273.3(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075
NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro) rs1567860112
NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg) rs1567860891
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.3(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.4073-2A>G rs1567864750
NM_001005273.3(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001005273.3(CHD3):c.5802_5803insGAAC (p.Phe1935fs) rs1567878511
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs) rs2080112105
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs) rs778917289
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly) rs1553130904
NM_001012614.2(CTBP1):c.125_127del (p.Phe42del) rs1731781760
NM_001015877.2(PHF6):c.1022A>G (p.Glu341Gly) rs2077504269
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys) rs1602537958
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg) rs886039435
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly) rs1841140785
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs) rs1841239642
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.731C>T (p.Pro244Leu) rs878853145
NM_001040142.2(SCN2A):c.4082G>A (p.Gly1361Asp) rs1701224556
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4959G>C (p.Leu1653Phe) rs1702008760
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) rs1553567864
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter) rs2042188851
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083961.2(WDR62):c.2520+5G>T rs754976942
NM_001083961.2(WDR62):c.3361del (p.Ala1121fs) rs1973468140
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) rs1599375711
NM_001098621.4(LYSET):c.216dup (p.His73fs) rs1894051550
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.173C>T (p.Ala58Val) rs1784832575
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly) rs61749721
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe) rs1173578471
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr) rs1755334003
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys) rs1445802934
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln) rs2059194330
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn) rs2049489016
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001171613.2(PREPL):c.1827+5G>A rs1672986669
NM_001172509.2(SATB2):c.598-2A>G rs1574554519
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) rs1928459143
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His) rs587784300
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu) rs1671446564
NM_001197104.2(KMT2A):c.4012+1del rs1950143446
NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe) rs1950562472
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup) rs2096680726
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu) rs879253976
NM_001252024.2(TRPM1):c.1623+1G>A rs2033825467
NM_001271.4(CHD2):c.1940C>T (p.Thr647Ile) rs2053619599
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer) rs1064796496
NM_001271.4(CHD2):c.4138-1G>A rs2054265721
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter) rs1555439545
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro) rs2064692485
NM_001282531.3(ADNP):c.-89-3923_201+2793inv
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu) rs1227643933
NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn) rs2052976421
NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr) rs1558371790
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp) rs2053776375
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly) rs1603401125
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) rs1060505033
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg) rs2148613074
NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter) rs2043168875
NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs) rs2041937196
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter) rs1574994308
NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs) rs2108202536
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs) rs1576288424
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His) rs1576028676
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly) rs869025202
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1652+5G>C rs794727216
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001352913.2(PPP2R5C):c.529G>A (p.Glu177Lys) rs1595460164
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) rs2066265350
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu) rs2063922414
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp) rs2063928003
NM_001356.5(DDX3X):c.543+3_543+6del rs2063869050
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro) rs2013246660
NM_001365902.3(NFIX):c.477dup (p.Gly160fs) rs2013265950
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu) rs2147495667
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg) rs2067197219
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.875_877del (p.Val292del) rs2066559023
NM_001371727.1(GABRB2):c.151C>G (p.Leu51Val) rs1760985866
NM_001371727.1(GABRB2):c.228A>T (p.Glu76Asp)
NM_001371727.1(GABRB2):c.672T>A (p.Phe224Leu) rs2113408096
NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile) rs1753824440
NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr) rs1064795444
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)
NM_001371727.1(GABRB2):c.895A>G (p.Ile299Val) rs1580984895
NM_001371727.1(GABRB2):c.901T>C (p.Tyr301His) rs2113397784
NM_001371727.1(GABRB2):c.907A>G (p.Lys303Glu)
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr) rs1753822503
NM_001371928.1(AHDC1):c.3078_3079insCA (p.Gly1027fs) rs2019359088
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter) rs1259041590
NM_001376.5(DYNC1H1):c.10973G>A (p.Gly3658Glu) rs1595629181
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys) rs2047950288
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg) rs2047998539
NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr) rs1595609005
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His) rs1236304133
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly) rs2093873717
NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys) rs1464137864
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu) rs2069582666
NM_001385012.1(NBEA):c.8322G>A (p.Trp2774Ter) rs2153082059
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter) rs1951071576
NM_001394998.1(TANC2):c.3765+1G>T rs2048707664
NM_001650.7(AQP4):c.332G>C (p.Ser111Thr) rs1555661648
NM_001852.4(COL9A2):c.1145G>T (p.Gly382Val) rs1431787303
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer) rs2073222422
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002024.6(FMR1):c.673G>A (p.Val225Ile)
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp) rs1135401746
NM_002291.3(LAMB1):c.5002del (p.Glu1668fs) rs1278743247
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg) rs1227804681
NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg) rs1569459580
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs) rs2129224282
NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg) rs2122521078
NM_002816.5(PSMD12):c.795+1G>A rs2041974262
NM_002830.4(PTPN4):c.1738G>T (p.Asp580Tyr) rs1679218434
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu) rs397507536
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr) rs989031241
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg) rs2055786277
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys) rs1697264007
NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val) rs1697444014
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val) rs1586660338
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) rs1586660370
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val) rs1586660389
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn) rs863224922
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg) rs1821584135
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) rs1586692481
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys) rs1586692548
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu) rs1586692551
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys) rs1823200345
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del) rs1597665063
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu) rs2038452898
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs) rs2141185978
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.248G>A (p.Arg83His) rs1603290366
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_003590.5(CUL3):c.743_744dup (p.Met249Ter) rs1692824104
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)
NM_003805.5(CRADD):c.285dup (p.Asp96fs) rs1555213545
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) rs1573589807
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter) rs778229060
NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter) rs1828368702
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg) rs2073528836
NM_004187.5(KDM5C):c.709C>T (p.Gln237Ter) rs1602226289
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr) rs2051863859
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro) rs2051852330
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln) rs1983540456
NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly) rs2067699201
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004606.5(TAF1):c.2714G>A (p.Gly905Asp) rs2034442612
NM_004606.5(TAF1):c.3184C>T (p.Arg1062Cys) rs2034677583
NM_004606.5(TAF1):c.715G>A (p.Val239Met) rs2033574124
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly) rs2068797192
NM_004830.4(MED23):c.953del (p.Glu318fs) rs1776174152
NM_004879.5(EI24):c.742C>T (p.Pro248Ser) rs1938981293
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn) rs1569017160
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr) rs1569017025
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter) rs1569016820
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn) rs754901294
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr) rs1555455456
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile) rs1830549152
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.430A>G (p.Lys144Glu) rs1581036396
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs) rs2057404166
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys) rs1762178779
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu) rs1570600997
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.286del (p.Met96fs) rs1643481930
NM_006516.4(SLC2A1):c.339del (p.Lys114fs) rs1643480923
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) rs773339124
NM_006521.6(TFE3):c.566A>G (p.Tyr189Cys) rs2064742830
NM_006565.4(CTCF):c.280C>T (p.Gln94Ter) rs2052056277
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs) rs1553511226
NM_006734.4(HIVEP2):c.4036G>T (p.Gly1346Ter) rs1775510548
NM_006734.4(HIVEP2):c.6617_6618del (p.Pro2206fs) rs1774993424
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser) rs1760905358
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs) rs1761049027
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys) rs1554121202
NM_006940.4:c.1489-7709_1771+1399del
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter) rs1420871345
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) rs2057891984
NM_007118.4(TRIO):c.3908C>T (p.Thr1303Ile) rs1746764895
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu) rs1747667518
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser) rs1833598160
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg) rs1833614590
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) rs1833635820
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_012199.5(AGO1):c.2252A>T (p.His751Leu) rs2148725560
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe) rs2148726029
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg) rs1645264815
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys) rs2148711374
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012199.5(AGO1):c.650-2A>G rs1645271555
NM_012199.5(AGO1):c.758G>A (p.Arg253His) rs1645273962
NM_012199.5(AGO1):c.760G>A (p.Val254Ile) rs1645274152
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs) rs1907323150
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs) rs2034490973
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs) rs2034289118
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs) rs2034054366
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs) rs2151733047
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013436.5(NCKAP1):c.155del (p.Asn52fs)
NM_014141.6(CNTNAP2):c.97+3A>T rs1584757170
NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs) rs1933958646
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014712.3(SETD1A):c.2330_2337del (p.Ala777fs) rs2056144779
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014927.5(CNKSR2):c.228+1G>A
NM_015021.3(ZNF292):c.1787_1790del (p.Ser596fs) rs1775154516
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) rs865909396
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs) rs1775236367
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs) rs1654056152
NM_015100.4(POGZ):c.2400dup (p.Lys801fs) rs1653809027
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs) rs1653807656
NM_015100.4(POGZ):c.2469del (p.Thr824fs) rs1653766307
NM_015100.4(POGZ):c.2574del (p.His858fs) rs1653647344
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter) rs779530889
NM_015335.5(MED13L):c.2345-3C>G rs1592939069
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser) rs1057524103
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter) rs2137307992
NM_015335.5(MED13L):c.392_395del (p.Glu131fs) rs1874072493
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015559.3(SETBP1):c.2516del (p.Pro839fs) rs2071360713
NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter) rs2071295138
NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs) rs1789811451
NM_015981.4(CAMK2A):c.598+2dup rs1554122123
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.881+1G>C rs1927636898
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)
NM_016284.5(CNOT1):c.2318C>G (p.Ser773Ter) rs2151940462
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_018026.4(PACS1):c.755C>T (p.Ser252Phe)
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter) rs1846799593
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) rs1603060007
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter) rs1890387347
NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter) rs1265340906
NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn) rs1558650788
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) rs1352259738
NM_022552.5(DNMT3A):c.705del (p.Glu235fs) rs1675087282
NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)
NM_022893.4(BCL11A):c.55+1G>T rs1670493597
NM_022893.4(BCL11A):c.977C>A (p.Thr326Lys) rs1676326365
NM_024298.5(MBOAT7):c.251del (p.Leu84fs) rs2076453977
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter) rs755371824
NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu) rs1713131684
NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg) rs1716297832
NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter)
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs) rs2067697776
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) rs2032172594
NM_030665.4(RAI1):c.3594G>T (p.Arg1198Ser) rs2032257286
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn) rs2067907694
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del) rs2067904283
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs) rs1553283831
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val) rs778171763
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter) rs2145342438
NM_032108.4(SEMA6B):c.481C>G (p.Leu161Val) rs1490417837
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs) rs1722830922
NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg) rs764279982
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg) rs2073064247
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys) rs2124181878
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter) rs2073068605
NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser) rs2124152159
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter) rs1599560256
NM_033028.5(BBS4):c.221-1047_405+2899del
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter) rs1555906768
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs) rs1555906781
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter) rs1555907620
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs) rs1555907623
NM_078629.4(MSL3):c.1381+1G>T rs1555907626
NM_078629.4(MSL3):c.1436dup (p.Leu480fs) rs1555907653
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs) rs1555907864
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro) rs1555906707
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter) rs2056119926
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp) rs2074492359
NM_133433.4(NIPBL):c.6470A>G (p.Asp2157Gly) rs1752883292
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp) rs1822581744
NM_152703.5(SAMD9L):c.2722A>G (p.Ile908Val) rs1792226793
NM_171825.2(CAMK2A):c.65del rs1554123982
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro) rs2081190512
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
NM_173495.3(PTCHD1):c.95C>G (p.Pro32Arg) rs1569130365
NM_181303.2(NLGN3):c.1849C>T (p.Arg617Trp) rs878853147
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter) rs1695336858
NM_182641.4(BPTF):c.5587C>T (p.Arg1863Ter) rs2063551300
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter) rs1562928193
NM_198428.3(BBS9):c.2153del (p.Gly718fs) rs1369313123
NM_198880.3(QRICH1):c.914dup (p.Gly306fs) rs2106905056
NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp) rs543339576
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
Single allele
inv(X)(p22.2q28)

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