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: 307
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HGVS dbSNP
NC_000001.11:g.113112477_113112478del
NC_000001.11:g.151406200del
NC_000001.11:g.22081753T>C
NC_000001.11:g.226965720G>A
NC_000001.11:g.226985306_226985307del
NC_000001.11:g.42943238A>C
NC_000002.12:g.1910324G>A
NC_000002.12:g.199328864_199328867del
NC_000002.12:g.5693937del
NC_000002.12:g.72887450_72887451insGGGCGGGCTG
NC_000002.12:g.73908754C>G
NC_000002.12:g.85846486C>T
NC_000003.12:g.11025535del
NC_000003.12:g.149158772C>T
NC_000003.12:g.41239269del
NC_000003.12:g.43555409A>G
NC_000003.12:g.52149838C>G
NC_000003.12:g.9440558C>T
NC_000003.12:g.9442156A>G
NC_000003.12:g.9447232_9447233CT[1]
NC_000004.12:g.112647783_112647786del
NC_000005.10:g.140114611A>G
NC_000005.10:g.150289577C>T
NC_000005.10:g.93585113_93585122del
NC_000005.10:g.93585312C>T
NC_000006.12:g.1610806G>A
NC_000007.14:g.155803187C>A
NC_000007.14:g.23140945G>A
NC_000008.11:g.119762442G>A
NC_000008.11:g.143816645del
NC_000008.11:g.99776774G>A
NC_000009.12:g.124493030C>T
NC_000009.12:g.126693527C>G
NC_000009.12:g.137743962_137743963dup
NC_000009.12:g.83977702_83977705delinsTGAT
NC_000010.11:g.92632625T>C
NC_000011.10:g.118491830C>T
NC_000011.10:g.118504073_118504074AG[1]
NC_000012.12:g.109529943dup
NC_000012.12:g.21894131G>A
NC_000012.12:g.4299978C>T
NC_000013.11:g.35475402dup
NC_000014.9:g.101882230G>A
NC_000014.9:g.101979787T>G
NC_000014.9:g.21394336_21394345del
NC_000016.10:g.1984437del
NC_000016.10:g.1984721_1984722del
NC_000016.10:g.3729564_3729566del
NC_000016.10:g.56192353G>A
NC_000016.10:g.89284215A>C
NC_000017.11:g.31181425C>G
NC_000017.11:g.59056920_59056921insGCGAGTAAGTC
NC_000018.10:g.55229016C>G
NC_000020.11:g.32436481del
NC_000021.9:g.37490462_37490465del
NC_000022.11:g.31778107_31778108insCTGG
NC_000022.11:g.41169562C>T
NC_000023.10:g.11600773_12249902del649130
NC_000023.10:g.11633731_11797224del163494
NC_000023.11:g.153694343del
NC_000023.11:g.41344090_41344091AG[2]
NC_000023.11:g.41344097dup
NC_000023.11:g.41344261G>C
NC_000023.11:g.41346570dup
NC_000023.11:g.53201854C>A
NC_000023.11:g.71129143G>T
NM_000059.3(BRCA2):c.5611_5615AGTAA[1] (p.Lys1872fs) rs80359525
NM_000059.3(BRCA2):c.8218_8222del (p.Leu2740fs) rs1566245731
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000248.3(MITF):c.604G>A (p.Glu202Lys) rs1553704086
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000310.3(PPT1):c.471delT
NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000400.3(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
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_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095
NM_000789.4(ACE):c.3503+1G>C rs779188587
NM_000965.4(RARB):c.872A>T (p.His291Leu) rs1553637470
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
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_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) rs1555810299
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) rs776800006
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001079846.1(CREBBP):c.4322_4324del (p.Gly1441del) rs1555473122
NM_001079872.1(CUL4B):c.1396C>T
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001128849.2(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001145293.1(NGLY1):c.1427_1434del
NM_001146702.1(KDM5C):c.388dupC
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser) rs1332109041
NM_001267550.2(TTN):c.56347+1G>A
NM_001267550.2(TTN):c.56648-1G>A
NM_001278511.1:c.1014+1G>C
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) rs1057519269
NM_001291415.1(KDM6A):c.3925G>T (p.Glu1309Ter) rs1556357274
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009
NM_001347721.2(DYRK1A):c.1213-2A>G
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.4(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys) rs1047509819
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001457.4(FLNB):c.3446_3455del (p.Gly1149fs) rs1553701033
NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs) rs1553703909
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002501.3(NFIX):c.[346C>T;348G>A]
NM_002501.4(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_002501.4(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
NM_002585.3(PBX1):c.145C>T
NM_002585.3(PBX1):c.701G>A (p.Arg234Gln) rs1553248112
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003042.4(SLC6A1):c.1528-1G>C
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn) rs1555605795
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003220.3(TFAP2A):c.706C>T (p.Arg236Trp) rs1554111749
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) rs878853264
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_003620.3(PPM1D):c.1277del (p.Pro426fs) rs1555649009
NM_004187.4(KDM5C):c.1795C>T (p.Arg599Cys) rs1556842184
NM_004260.3(RECQL4):c.2336_2357del (p.Asp779fs) rs1554898257
NM_004260.3(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs) rs1554896308
NM_004429.4(EFNB1):c.499+1G>A rs1556107481
NM_004484.3(GPC3):c.1494C>A (p.Cys498Ter) rs753210097
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004606.4(TAF1):c.4286C>T (p.Pro1429Leu) rs1555980523
NM_004830.4(MED23):c.2364_2367CTTT[1] (p.Leu790fs) rs760262127
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004992.3(MECP2):c.1164_1199delinsT (p.Pro389fs) rs1557135346
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005321.2(H1-4):c.425_426insG rs1131690805
NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter) rs1554757237
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) rs1554074850
NM_005691.3(ABCC9):c.3650G>A (p.Arg1217Lys) rs12298510
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.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_006194.3(PAX9):c.51C>G
NM_006492.3(ALX3):c.736_737del (p.Leu246fs) rs1553196068
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
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.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
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.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_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_006920.6(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
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
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.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_014009.3(FOXP3):c.736-1G>A
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr) rs1553960788
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_015100.4(POGZ):c.1524-3C>G
NM_015100.4(POGZ):c.2545+1del
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374
NM_015107.3(PHF8):c.2444-2A>G
NM_015215.4(CAMTA1):c.800del (p.Ser267fs) rs1553238311
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_015243.2(VPS13B):c.292-7A>G rs1554612610
NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_015330.5(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
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
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015443.3(KANSL1):c.876del
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) rs150848976
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016648.4(LARP7):c.203-12_231del
NM_016941.4(DLL3):c.534C>A (p.Cys178Ter) rs1447189148
NM_017519.2(ARID1B):c.2130_2149del
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.3681T>A (p.Tyr1227Ter) rs1554814266
NM_017890.4(VPS13B):c.3870+1G>T rs764225649
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter) rs1553187362
NM_020699.4(GATAD2B):c.597+1G>A
NM_020732.3(ARID1B):c.1836del
NM_020760.4:c.4471G>C
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) rs1554774322
NM_020975.6(RET):c.1879+1G>A
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_021964.2(ZNF148):c.1504C>T
NM_022455.4(NSD1):c.4538_4539insTCCT
NM_022455.4(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.4(NSD1):c.6256A>T
NM_022552.4(DNMT3A):c.1634A>G (p.Glu545Gly) rs1553412485
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter) rs1553353022
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter)
NM_024577.3(SH3TC2):c.2431C>T
NM_024598.3(USB1):c.345del (p.Arg115_Met116insTer) rs1555498120
NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024665.6:c.1336T>C
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter) rs771057519
NM_031466.7(TRAPPC9):c.1708C>T (p.Arg570Ter) rs267607137
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
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_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_130838.3(UBE3A):c.1636G>A (p.Gly546Ser) rs1555393242
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs) rs1554020579
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.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_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177559.3(CSNK2A1):c.153T>A (p.Ser51Arg) rs1555764992
NM_198173.3(GRHL3):c.1225C>T (p.Arg409Cys) rs770938921
NM_198897.2(FIBP):c.673C>T (p.Gln225Ter) rs786204849
NM_205768.2(ZBTB18):c.1301T>C (p.Leu434Pro) rs1553270599
NM_205768.2(ZBTB18):c.1355G>A
Single allele
inv(X)(p22.2q28)

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