ClinVar Miner

List of variants reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 490
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HGVS dbSNP
GRCh37/hg19 2q24.2(chr2:161561653-163178787)
GRCh37/hg19 2q24.2(chr2:161967492-162428730)
GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)
NC_000001.11:g.113112477_113112478del rs1570764426
NC_000023.10:g.11600773_12249902del649130
NC_000023.10:g.11633731_11797224del163494
NC_000023.11:g.153694343del rs1603217468
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000059.3(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634
NM_000059.3(BRCA2):c.8218_8222del (p.Leu2740fs) rs1566245731
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795
NM_000193.4(SHH):c.1102G>T (p.Glu368Ter) rs753315599
NM_000233.4(LHCGR):c.233+1G>A rs1572874955
NM_000233.4(LHCGR):c.947+4_947+7del rs1572817589
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000310.4(PPT1):c.471del (p.His158fs) rs1570467252
NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg)
NM_000400.3(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter)
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000539.3(RHO):c.571T>A (p.Tyr191Asn) rs1578280614
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558
NM_000701.8(ATP1A1):c.998C>G (p.Pro333Arg) rs1401759980
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095
NM_000789.4(ACE):c.3503+1G>C rs779188587
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) rs1168374610
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter)
NM_000875.5(IGF1R):c.1906_1907dup (p.Pro637fs)
NM_000933.3(PLCB4):c.1888G>A (p.Asp630Asn) rs1568763104
NM_000965.4(RARB):c.872A>T (p.His291Leu) rs1553637470
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001007527.2(LMBRD2):c.1447C>T (p.Arg483Cys)
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983
NM_001029882.3(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001029882.3(AHDC1):c.932del (p.Gly311fs) rs1553159764
NM_001029896.2(WDR45):c.437-1G>A rs1602538372
NM_001031710.3(KLHL7):c.1196T>A (p.Leu399Ter) rs1554293056
NM_001031710.3(KLHL7):c.1291del (p.Gly430_Leu431insTer) rs1554293083
NM_001031710.3(KLHL7):c.618+1G>A rs1554289078
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032280.3(TFAP2A):c.688C>T (p.Arg230Trp) rs1554111749
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr) rs1581069143
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly) rs1581069148
NM_001040142.2(SCN2A):c.1141A>G (p.Met381Val)
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.5641G>T (p.Glu1881Ter) rs1553463775
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040616.3(LINS1):c.[557_558del;597del]
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) rs1555810299
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) rs776800006
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg) rs1597658021
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001080517.3(SETD5):c.1709_1710del (p.Ser570fs) rs1575467723
NM_001080517.3(SETD5):c.670C>T (p.Gln224Ter) rs1575421295
NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu) rs1575430613
NM_001083962.2(TCF4):c.1147-255_1350+179del rs1600275237
NM_001083962.2(TCF4):c.1710G>C (p.Arg570Ser) rs1599377405
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.931G>C (p.Asp311His)
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) rs1557135346
NM_001110792.2(MECP2):c.[1046_1072del;1123AAG[1]1152_1282del]
NM_001127392.3(MYRF):c.3208del (p.Val1070fs)
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127713.1(ATL1):c.461A>G (p.Gln154Arg) rs1060502971
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His)
NM_001145468.3(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137
NM_001164342.2(ZBTB20):c.1862T>C (p.Leu621Pro) rs1576220750
NM_001164617.2(GPC3):c.1563C>A (p.Cys521Ter) rs753210097
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser) rs1332109041
NM_001170629.2(CHD8):c.3338del (p.Arg1113fs) rs1594344768
NM_001170629.2(CHD8):c.4727+1del rs1594340060
NM_001170629.2(CHD8):c.5534_5543del (p.Lys1845fs) rs1594331875
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs) rs1574510975
NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly) rs121909492
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001193416.3(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001193416.3(DDX3X):c.887G>C (p.Arg296Pro) rs1602132216
NM_001193417.3(DDX3X):c.103+1614del rs1602122237
NM_001193466.2(KANSL1):c.876del (p.Asp293fs) rs1597872089
NM_001197104.2(KMT2A):c.3935_3936del (p.Thr1312fs) rs1591385068
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) rs1591266263
NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs) rs1591283017
NM_001204961.1(PBX1):c.701G>A (p.Arg234Gln) rs1553248112
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs)
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs) rs1601755632
NM_001256007.3(PNPLA8):c.944_945del (p.Lys314_Tyr315insTer)
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.56648-1G>A rs769912484
NM_001271208.2(NEB):c.12330+2T>C rs1374971806
NM_001271208.2(NEB):c.4299+4A>G rs781754253
NM_001278512.2(AP3B2):c.1110+1G>C rs1057519270
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) rs1057519269
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_001287491.2(TET3):c.2718C>A (p.Cys906Ter)
NM_001303052.2(MYT1L):c.1733C>T (p.Ala578Val) rs1573483715
NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter)
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001348768.2(HECW2):c.4471G>C (p.Glu1491Gln) rs1575235801
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys) rs1553704086
NM_001356.4(DDX3X):c.1563dup (p.Ile522fs) rs1602136369
NM_001356.4(DDX3X):c.833dup (p.Leu278fs) rs1602131872
NM_001356.5(DDX3X):c.113A>G rs1555951993
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365.4(DLG4):c.1147_1154del (p.Phe383fs) rs1597453595
NM_001365.4(DLG4):c.1672+2T>C rs1597444614
NM_001365.4(DLG4):c.1843del (p.Glu615fs) rs1597442444
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu)
NM_001371533.1(FUT8):c.12G>A (p.Trp4Ter)
NM_001372076.1(PAX9):c.51C>G (p.Asn17Lys) rs745522921
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs) rs1582908829
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) rs1583280025
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)
NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys) rs1047509819
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp) rs1595597572
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr) rs1555409836
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536
NM_001377.3(DYNC2H1):c.9157C>T (p.Arg3053Ter)
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001385012.1(NBEA):c.8322G>A (p.Trp2774Ter)
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val) rs1602041478
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser) rs1581373773
NM_001457.4(FLNB):c.3446_3455del (p.Gly1149fs) rs1553701033
NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs) rs1553703909
NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala) rs1573468797
NM_001664.4(RHOA):c.208A>G (p.Arg70Gly)
NM_001690.4(ATP6V1A):c.790T>C (p.Ser264Pro)
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001791.4(CDC42):c.137T>C (p.Ile46Thr) rs1570024112
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842
NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) rs1594566751
NM_001904.4(CTNNB1):c.2273del (p.His758fs) rs1575339920
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001999.4(FBN2):c.4154T>C (p.Leu1385Pro) rs1581222106
NM_002069.6(GNAI1):c.142A>C (p.Thr48Pro)
NM_002299.4(LCT):c.[4363C>T;4950C>A]
NM_002335.4(LRP5):c.[1270G>A;3077C>G]
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly) rs1580988074
NM_002501.3(NFIX):c.[346C>T;348G>A]
NM_002501.4(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_002501.4(NFIX):c.344G>A (p.Arg115Gln) rs1599738398
NM_002501.4(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter)
NM_002585.4(PBX1):c.145C>T (p.Gln49Ter) rs1571217834
NM_002641.3(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs)
NM_002719.4(PPP2R5C):c.364G>A (p.Glu122Lys) rs1595460164
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1528-1G>C rs1574924801
NM_003042.4(SLC6A1):c.801del (p.Ile268fs) rs1574906665
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) rs1570623881
NM_003070.5(SMARCA2):c.1529A>G (p.Asp510Gly)
NM_003072.4(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn) rs1555605795
NM_003104.6(SORD):c.757del (p.Ala253fs)
NM_003108.4(SOX11):c.1216del (p.Ser406fs) rs1572217107
NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs) rs1573881742
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu) rs750451843
NM_003309.4(TSPYL1):c.236del (p.Gly79fs)
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs)
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) rs1555904480
NM_003611.3(OFD1):c.112-2del rs1555900675
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.412+1G>T rs1555901169
NM_003611.3(OFD1):c.613_614delinsTATA (p.Arg205fs) rs1602826217
NM_003620.3(PPM1D):c.1277del (p.Pro426fs) rs1555649009
NM_003718.5(CDK13):c.2194G>A (p.Ala732Thr) rs1583972803
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) rs1573589807
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys) rs1556842184
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) rs786204849
NM_004260.3(RECQL4):c.2336_2357del (p.Asp779fs) rs1554898257
NM_004260.3(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs) rs1554896308
NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu) rs1554168326
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys) rs1596853925
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del) rs1555473122
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del) rs1596787459
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004429.4(EFNB1):c.499+1G>A rs1556107481
NM_004523.4(KIF11):c.1580A>T (p.Asn527Ile)
NM_004523.4(KIF11):c.1634T>C (p.Met545Thr) rs1564713037
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004606.4(TAF1):c.4549A>C (p.Asn1517His) rs1602624914
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu) rs1555980523
NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro)
NM_004793.4(LONP1):c.1321G>A (p.Glu441Lys) rs745742429
NM_004793.4(LONP1):c.2815T>C (p.Tyr939His) rs1599439595
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn)
NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr)
NM_004958.4(MTOR):c.4556C>T (p.Ala1519Val)
NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr)
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile) rs1553171141
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp) rs1601071071
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys)
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005445.4(SMC3):c.2952_2954del (p.Lys985del) rs1590571077
NM_005450.6(NOG):c.554C>G (p.Ser185Cys)
NM_005584.5(MAB21L1):c.737dup (p.Cys246fs) rs1594757530
NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter) rs1554757237
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795
NM_005618.4(DLL1):c.553G>T (p.Gly185Ter)
NM_005631.5(SMO):c.1198C>T (p.Arg400Cys)
NM_005631.5(SMO):c.754T>C (p.Phe252Leu)
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) rs1287146448
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) rs1554074850
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) rs1580358347
NM_005691.3(ABCC9):c.1703C>T (p.Pro568Leu) rs1592166720
NM_005852.4(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_005859.5(PURA):c.383_386dup (p.Pro130fs)
NM_005859.5(PURA):c.430A>G (p.Lys144Glu) rs1581036396
NM_005859.5(PURA):c.50del (p.Ser17fs) rs1554129008
NM_005859.5(PURA):c.511C>G (p.Arg171Gly) rs1554129100
NM_005862.3(STAG1):c.1052T>G (p.Leu351Trp) rs1553727865
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1433A>C (p.His478Pro) rs1553722309
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs) rs1553722294
NM_005862.3(STAG1):c.1736dup (p.Ser580fs) rs1553718528
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119
NM_005862.3(STAG1):c.641A>G (p.Gln214Arg) rs1553738694
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005862.3(STAG1):c.997A>C (p.Lys333Gln) rs1553728634
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs) rs1553153291
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006147.4(IRF6):c.659C>T (p.Ser220Phe) rs1553247877
NM_006245.4(PPP2R5D):c.592_600del (p.Glu198_Glu200del)
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
NM_006352.4(ZBTB18):c.1274T>C (p.Leu425Pro) rs1553270599
NM_006492.3(ALX3):c.736_737del (p.Leu246fs) rs1553196068
NM_006516.3(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006545.5(NPRL2):c.79-1G>T
NM_006593.4(TBR1):c.1105_1113del (p.Val369_Ala371del)
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_006593.4(TBR1):c.1155C>G (p.Asn385Lys) rs762713626
NM_006593.4(TBR1):c.1177dup (p.Asp393fs) rs1553510680
NM_006593.4(TBR1):c.1369_1371delinsCA (p.Thr457fs) rs1553511175
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.1635_1644dup (p.Ser549fs)
NM_006593.4(TBR1):c.1639_1648dup (p.Pro550fs) rs1553511216
NM_006593.4(TBR1):c.1652dup (p.Gln552fs) rs1553511224
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs) rs1553511226
NM_006593.4(TBR1):c.471del (p.Ala156_Tyr157insTer) rs1553510171
NM_006593.4(TBR1):c.553C>T (p.Gln185Ter)
NM_006593.4(TBR1):c.673A>T (p.Ile225Phe) rs1553510217
NM_006593.4(TBR1):c.713_719del (p.Ser238fs) rs1553510280
NM_006593.4(TBR1):c.811T>C (p.Trp271Arg) rs1553510301
NM_006593.4(TBR1):c.812G>C (p.Trp271Ser) rs1553510303
NM_006593.4(TBR1):c.844C>T (p.Gln282Ter) rs1553510313
NM_006593.4(TBR1):c.896G>A (p.Trp299Ter) rs1553510385
NM_006593.4(TBR1):c.933_934insCAAAGGA (p.Thr312fs)
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006852.4(TLK2):c.1487A>G (p.His496Arg) rs1567995650
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) rs1180294322
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006946.3(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.3(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_007118.4(TRIO):c.4860-2A>G rs1579564431
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) rs751215527
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) rs1554845880
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs)
NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu)
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_014009.3(FOXP3):c.736-1G>A rs1602684221
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014489.4(PGAP2):c.881C>T (p.Thr294Met) rs747658866
NM_014795.4(ZEB2):c.3067G>A (p.Gly1023Arg) rs1573713430
NM_014795.4(ZEB2):c.3098del (p.Lys1033fs) rs1573708180
NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr) rs1553960788
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs)
NM_014991.6(WDFY3):c.957-2A>G
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)
NM_015021.3(ZNF292):c.3319C>T (p.Arg1107Ter)
NM_015100.4(POGZ):c.1524-3C>G rs367963956
NM_015100.4(POGZ):c.2545+1del rs1571332089
NM_015100.4(POGZ):c.2836del (p.Asp946fs) rs1571326296
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374
NM_015107.3(PHF8):c.2444-2A>G rs1603305030
NM_015125.4(CIC):c.2974C>T (p.Gln992Ter) rs1135401825
NM_015215.4(CAMTA1):c.800del (p.Ser267fs) rs1553238311
NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) rs1599230814
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) rs1601294872
NM_015331.3(NCSTN):c.944C>T (p.Ala315Val) rs1553210405
NM_015335.4(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.4(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.5(MED13L):c.1A>T (p.Met1Leu)
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) rs1600592990
NM_015354.3(NUP188):c.1851_1852delinsG (p.Cys617fs)
NM_015354.3(NUP188):c.3515+1G>A
NM_015426.5(POC1A):c.253G>C (p.Val85Leu) rs112213336
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) rs1585645384
NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu) rs1595625104
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys) rs1580966945
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) rs150848976
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016284.5(CNOT1):c.102+2T>C
NM_016284.5(CNOT1):c.2318C>G (p.Ser773Ter)
NM_016284.5(CNOT1):c.3681_3687del (p.Lys1227fs)
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_016648.4(LARP7):c.203-12_231del rs1578580129
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)
NM_017519.2(ARID1B):c.5855T>C (p.Met1952Thr) rs1583516082
NM_017646.6(TRIT1):c.326T>C (p.Ile109Thr) rs146838322
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506fs) rs1554581504
NM_017890.4(VPS13B):c.10847_10849del (p.Phe3616del) rs1554581821
NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_017890.4(VPS13B):c.292-7A>G rs1554612610
NM_017890.4(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_017890.4(VPS13B):c.3870+1G>T rs764225649
NM_017890.4(VPS13B):c.7323-1G>A rs763079458
NM_017934.7(PHIP):c.1558dup (p.Cys520fs) rs1582206547
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)
NM_017951.5(SMPD4):c.1137CTT[1] (p.Phe380del)
NM_017951.5(SMPD4):c.1174del (p.Ala392fs)
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) rs1575415900
NM_018131.5(CEP55):c.[256C>T;993+3A>C]
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322
NM_020297.3(ABCC9):c.3650G>A (p.Arg1217Lys) rs12298510
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter) rs1553187362
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.598-1G>A
NM_020732.3(ARID1B):c.5267_5270del (p.Glu1756fs) rs1583513256
NM_020791.4(TAOK1):c.589A>C (p.Met197Leu)
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) rs1554774322
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) rs886041715
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_021140.3(KDM6A):c.3769G>T (p.Glu1257Ter) rs1556357274
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_021964.2(ZNF148):c.1504C>T (p.Gln502Ter) rs1579576360
NM_022455.4(NSD1):c.4538_4539insTCCT (p.Glu1513fs) rs1581433729
NM_022455.4(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.4(NSD1):c.6256A>T (p.Lys2086Ter) rs1581548112
NM_022489.4(INF2):c.167G>A (p.Arg56His) rs1595163730
NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly) rs1553412485
NM_022716.4(PRRX1):c.317T>C (p.Leu106Pro)
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter) rs1553353022
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024496.4(IRF2BPL):c.1183G>C (p.Asp395His)
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter) rs1580900150
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs) rs1580889913
NM_024598.3(USB1):c.345del (p.Arg115_Met116insTer) rs1555498120
NM_024665.6(TBL1XR1):c.1336T>C (p.Tyr446His) rs1553808301
NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs) rs1588481921
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.2608-1G>C rs1588784791
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_025133.4(FBXO11):c.790-1G>C rs1572806589
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter) rs771057519
NM_030632.3(ASXL3):c.3613G>T (p.Glu1205Ter) rs1599571722
NM_031263.4(HNRNPK):c.140_143delinsATCA (p.Ile47_Leu48delinsAsnGln) rs1588434457
NM_031263.4(HNRNPK):c.452T>A (p.Ile151Asn)
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) rs1576687466
NM_032436.4(CHAMP1):c.661dup (p.Thr221fs) rs1594129609
NM_032756.2:c.342_345dup
NM_032756.2:c.788C>T
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996
NM_053274.3(GLMN):c.394+1G>A rs1258933474
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.1558del (p.Ser520fs) rs1586555859
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_130466.4(UBE3B):c.2681dup (p.Asn894fs) rs1592972259
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)
NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser) rs1555393242
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs) rs1554020579
NM_138576.4(BCL11B):c.1938_1950del (p.Ala647fs)
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs)
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) rs1569394026
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217
NM_152641.4(ARID2):c.5061+2T>C
NM_173483.4(CYP4F22):c.[1177_1179del;466C>T]
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177559.3(CSNK2A1):c.153T>A (p.Ser51Arg) rs1555764992
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_198173.3(GRHL3):c.1225C>T (p.Arg409Cys) rs770938921
NM_198880.3(QRICH1):c.914dup (p.Gly306fs)
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) rs1447189148
NM_205768.2(ZBTB18):c.1355G>A (p.Cys452Tyr) rs1572531830
Single allele
inv(X)(p22.2q28)

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