ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.2994del (p.Pro998_Met999insTer) rs1057519595 0.00001
NM_003482.4(KMT2D):c.7411C>T (p.Arg2471Ter) rs1057518571 0.00001
NM_003482.4(KMT2D):c.10570C>T (p.Gln3524Ter) rs1565780936
NM_003482.4(KMT2D):c.10638del (p.Gln3546fs) rs2120453226
NM_003482.4(KMT2D):c.10685_10688dup (p.Leu3564fs) rs2120452118
NM_003482.4(KMT2D):c.10706_10707dup (p.Gln3570fs) rs1592123024
NM_003482.4(KMT2D):c.10740+1G>A rs2120450900
NM_003482.4(KMT2D):c.10813C>T (p.Gln3605Ter)
NM_003482.4(KMT2D):c.10825C>T (p.Gln3609Ter)
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) rs398123704
NM_003482.4(KMT2D):c.11266C>T (p.Gln3756Ter)
NM_003482.4(KMT2D):c.11359dup (p.Val3787fs) rs2120442038
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs) rs587783683
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.4(KMT2D):c.11455_11467del (p.Gly3819fs)
NM_003482.4(KMT2D):c.1147del (p.Asp383fs)
NM_003482.4(KMT2D):c.11524C>T (p.Gln3842Ter) rs1943040858
NM_003482.4(KMT2D):c.11578C>T (p.Gln3860Ter) rs1371371699
NM_003482.4(KMT2D):c.11594_11602delinsC (p.Gln3865fs) rs1943032394
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.4(KMT2D):c.11755C>T (p.Gln3919Ter) rs1555188501
NM_003482.4(KMT2D):c.11769del (p.Gln3923fs) rs1943016958
NM_003482.4(KMT2D):c.11812C>T (p.Gln3938Ter) rs1350605713
NM_003482.4(KMT2D):c.11829del (p.Gln3943fs)
NM_003482.4(KMT2D):c.11866C>T (p.Gln3956Ter)
NM_003482.4(KMT2D):c.11881C>T (p.Gln3961Ter) rs1565776616
NM_003482.4(KMT2D):c.11902C>T (p.Gln3968Ter) rs1942993834
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter) rs1592118976
NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter) rs1592118953
NM_003482.4(KMT2D):c.12019C>T (p.Gln4007Ter) rs188017299
NM_003482.4(KMT2D):c.12027_12028del (p.Phe4009_Ser4010insTer)
NM_003482.4(KMT2D):c.12309_12310delinsTT (p.Gln4103_Gln4104delinsHisTer) rs2120430888
NM_003482.4(KMT2D):c.12335del (p.Gly4112fs) rs1942962939
NM_003482.4(KMT2D):c.12370_12382del (p.Ser4124fs) rs1942960710
NM_003482.4(KMT2D):c.12394dup (p.His4132fs)
NM_003482.4(KMT2D):c.12415_12416del (p.Val4139fs) rs2120430055
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter) rs1592117125
NM_003482.4(KMT2D):c.12737del (p.Pro4246fs) rs2120426821
NM_003482.4(KMT2D):c.12745C>T (p.Gln4249Ter)
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.4(KMT2D):c.12811_12814del (p.Thr4271fs) rs1592116886
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.12863_12869del (p.Arg4288fs)
NM_003482.4(KMT2D):c.12964C>T (p.Gln4322Ter) rs376217891
NM_003482.4(KMT2D):c.12985C>T (p.Gln4329Ter) rs1555187758
NM_003482.4(KMT2D):c.13004_13007del (p.Gln4335fs)
NM_003482.4(KMT2D):c.13091del (p.Gln4364fs)
NM_003482.4(KMT2D):c.13177_13178del (p.Ser4393fs)
NM_003482.4(KMT2D):c.13177dup (p.Ser4393fs) rs1942910047
NM_003482.4(KMT2D):c.13225G>T (p.Glu4409Ter) rs1942907207
NM_003482.4(KMT2D):c.13239_13240insT (p.Ser4414Ter) rs2120420448
NM_003482.4(KMT2D):c.13285del (p.Gln4429fs) rs2120419993
NM_003482.4(KMT2D):c.13318del (p.Pro4439_Ile4440insTer)
NM_003482.4(KMT2D):c.13320del (p.Ile4440fs) rs1845429019
NM_003482.4(KMT2D):c.13361del (p.Pro4454fs) rs1565771606
NM_003482.4(KMT2D):c.13375_13397del (p.Gly4459fs)
NM_003482.4(KMT2D):c.13441G>T (p.Glu4481Ter)
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.1345_1346del (p.Leu449fs) rs1555197682
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.1363G>T (p.Glu455Ter) rs2120685231
NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter) rs1555187117
NM_003482.4(KMT2D):c.13833_13837dup (p.Lys4613fs) rs1555187105
NM_003482.4(KMT2D):c.13884dup (p.Thr4629fs) rs886040960
NM_003482.4(KMT2D):c.13889del (p.Pro4630fs)
NM_003482.4(KMT2D):c.13895dup (p.Ser4633fs) rs1592112854
NM_003482.4(KMT2D):c.14071dup (p.Val4691fs) rs2120397732
NM_003482.4(KMT2D):c.14272dup (p.Tyr4758fs) rs2120388148
NM_003482.4(KMT2D):c.14302A>T (p.Lys4768Ter)
NM_003482.4(KMT2D):c.14360_14361del (p.Thr4787fs) rs1555186436
NM_003482.4(KMT2D):c.14688C>A (p.Tyr4896Ter) rs1555186079
NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs) rs1592157505
NM_003482.4(KMT2D):c.14700del (p.Leu4901fs) rs1555186066
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.14726del (p.Pro4909fs)
NM_003482.4(KMT2D):c.14823_14825delinsTGTT (p.Leu4941fs) rs1592106640
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.14925dup (p.Pro4976fs)
NM_003482.4(KMT2D):c.14944del (p.Trp4982fs)
NM_003482.4(KMT2D):c.14945G>A (p.Trp4982Ter) rs1942631986
NM_003482.4(KMT2D):c.14971_14972insT (p.Arg4991fs)
NM_003482.4(KMT2D):c.15013del (p.Asp5005fs) rs1942625813
NM_003482.4(KMT2D):c.15050dup (p.Thr5018fs) rs1592106062
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter) rs1942616266
NM_003482.4(KMT2D):c.15185G>A (p.Cys5062Tyr) rs1942615152
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15289C>T (p.Arg5097Ter) rs1942608745
NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter) rs1592157335
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15473del (p.Glu5158fs)
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) rs2137715091
NM_003482.4(KMT2D):c.1570del (p.Glu524fs)
NM_003482.4(KMT2D):c.15785-1G>C rs2137712168
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.4(KMT2D):c.15878T>C (p.Leu5293Pro) rs1942496967
NM_003482.4(KMT2D):c.16013G>A (p.Cys5338Tyr) rs2137710573
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln) rs1555185217
NM_003482.4(KMT2D):c.16149dup (p.Lys5384fs)
NM_003482.4(KMT2D):c.16154C>G (p.Ser5385Ter)
NM_003482.4(KMT2D):c.16170dup (p.Leu5391fs) rs2137707267
NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys) rs2137706560
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp) rs1565753611
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr) rs1388523736
NM_003482.4(KMT2D):c.16445_16446del (p.Val5482fs) rs1942357670
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.4(KMT2D):c.16515A>T (p.Gly5505=)
NM_003482.4(KMT2D):c.16522-2A>G
NM_003482.4(KMT2D):c.1748del (p.Pro583fs) rs1938074857
NM_003482.4(KMT2D):c.1762_1763del (p.Ser588fs) rs1938072820
NM_003482.4(KMT2D):c.1825del (p.Ser609fs) rs1592156633
NM_003482.4(KMT2D):c.206del (p.Cys69fs) rs2120713201
NM_003482.4(KMT2D):c.2173_2174del (p.Leu725fs) rs2120671121
NM_003482.4(KMT2D):c.2317dup (p.Gln773fs) rs1565817210
NM_003482.4(KMT2D):c.2533del (p.Arg845fs) rs767415197
NM_003482.4(KMT2D):c.273G>A (p.Trp91Ter) rs2120712071
NM_003482.4(KMT2D):c.303dup (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.3109_3110del (p.Ser1037fs) rs1555196415
NM_003482.4(KMT2D):c.3318del (p.Ser1107fs) rs2120648164
NM_003482.4(KMT2D):c.3326_3336del (p.Ala1109fs) rs1565813691
NM_003482.4(KMT2D):c.3361del (p.Asp1121fs) rs2120647463
NM_003482.4(KMT2D):c.3511G>T (p.Glu1171Ter)
NM_003482.4(KMT2D):c.3704del (p.Gly1235fs) rs1364500207
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.4(KMT2D):c.3788C>G (p.Ser1263Ter) rs1592151169
NM_003482.4(KMT2D):c.3903del (p.Lys1301fs) rs1565812092
NM_003482.4(KMT2D):c.4096_4099del (p.Leu1366fs)
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4142_4143del (p.Val1381fs) rs2120621151
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4204C>T (p.Gln1402Ter) rs1555195442
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4400del (p.Gly1467fs) rs1592146526
NM_003482.4(KMT2D):c.4454del (p.Pro1485fs)
NM_003482.4(KMT2D):c.4525_4528del (p.Ile1509fs) rs1592145939
NM_003482.4(KMT2D):c.4690del (p.Val1564fs) rs2120599595
NM_003482.4(KMT2D):c.4812dup (p.Met1605fs) rs1555194510
NM_003482.4(KMT2D):c.4843C>T (p.Arg1615Ter) rs1943714221
NM_003482.4(KMT2D):c.5149C>T (p.Gln1717Ter) rs1157281284
NM_003482.4(KMT2D):c.5199_5206dup (p.Pro1736fs) rs1592142239
NM_003482.4(KMT2D):c.525_535del (p.Cys175fs) rs1938253851
NM_003482.4(KMT2D):c.5263C>T (p.Gln1755Ter) rs1565802369
NM_003482.4(KMT2D):c.5276_5277dup (p.Lys1760fs) rs2120575149
NM_003482.4(KMT2D):c.5429dup (p.Gly1811fs)
NM_003482.4(KMT2D):c.544_548del (p.Ile182fs) rs1938252263
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.4(KMT2D):c.5526_5527del (p.Pro1844fs)
NM_003482.4(KMT2D):c.5526del (p.Asp1842fs) rs2120567609
NM_003482.4(KMT2D):c.5529_5530del (p.Pro1844fs)
NM_003482.4(KMT2D):c.5549dup (p.Val1851fs)
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) rs794727420
NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter) rs886041405
NM_003482.4(KMT2D):c.6073_6086del (p.Ala2024_Asn2025insTer) rs2120552933
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.4(KMT2D):c.6177del (p.Tyr2060fs) rs2120551414
NM_003482.4(KMT2D):c.6180C>A (p.Tyr2060Ter) rs186577948
NM_003482.4(KMT2D):c.6241dup (p.Glu2081fs) rs2120548391
NM_003482.4(KMT2D):c.6264del (p.Lys2089fs) rs1555192996
NM_003482.4(KMT2D):c.6285dup (p.Lys2096Ter)
NM_003482.4(KMT2D):c.6297_6300dup (p.Ala2101fs) rs1943527583
NM_003482.4(KMT2D):c.6354del (p.Ala2119fs) rs755159728
NM_003482.4(KMT2D):c.6423_6439del (p.Phe2142fs)
NM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter) rs1592137413
NM_003482.4(KMT2D):c.6508del (p.Gln2170fs) rs1592137369
NM_003482.4(KMT2D):c.6570dup (p.Thr2191fs)
NM_003482.4(KMT2D):c.6594del (p.Tyr2199fs) rs1555192751
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs) rs2120542630
NM_003482.4(KMT2D):c.6631dup (p.Met2211fs)
NM_003482.4(KMT2D):c.6673dup (p.Glu2225fs) rs1555192667
NM_003482.4(KMT2D):c.6707_6708dup (p.Gln2237fs) rs1592136884
NM_003482.4(KMT2D):c.673+1del rs2120702721
NM_003482.4(KMT2D):c.6880dup (p.Ala2294fs)
NM_003482.4(KMT2D):c.6986_6987insT (p.Leu2331fs) rs2120534874
NM_003482.4(KMT2D):c.6991dup (p.Leu2331fs) rs1592136317
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.4(KMT2D):c.7003dup (p.Ala2335fs)
NM_003482.4(KMT2D):c.7016_7043del (p.Glu2339fs) rs2120533487
NM_003482.4(KMT2D):c.702dup (p.Pro235fs) rs1555198318
NM_003482.4(KMT2D):c.713del (p.Leu238fs) rs1592160494
NM_003482.4(KMT2D):c.7183_7214delinsACT (p.Cys2395fs) rs1592135715
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) rs1943461045
NM_003482.4(KMT2D):c.7425del (p.Glu2476fs)
NM_003482.4(KMT2D):c.7505del (p.Pro2502fs)
NM_003482.4(KMT2D):c.7570_7573dup (p.Gly2525fs)
NM_003482.4(KMT2D):c.760del (p.Ala254fs) rs1938216114
NM_003482.4(KMT2D):c.767del (p.Leu256fs)
NM_003482.4(KMT2D):c.7769C>A (p.Ser2590Ter) rs760007799
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) rs794727549
NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter) rs1592133696
NM_003482.4(KMT2D):c.81dup (p.Ala28fs)
NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter) rs1565790749
NM_003482.4(KMT2D):c.8207_8210dup (p.Pro2738fs) rs1555191521
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
NM_003482.4(KMT2D):c.8311del (p.Arg2771fs)
NM_003482.4(KMT2D):c.836dup (p.Cys279fs) rs797045670
NM_003482.4(KMT2D):c.8386C>T (p.Gln2796Ter) rs1555191210
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.8478_8488del (p.Thr2827fs) rs1565789522
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.8529_8538del (p.Glu2844fs)
NM_003482.4(KMT2D):c.8564del (p.Ala2855fs) rs2120504102
NM_003482.4(KMT2D):c.866T>A (p.Leu289Ter) rs2120694782
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter) rs1592131106
NM_003482.4(KMT2D):c.9136G>T (p.Glu3046Ter) rs1943319609
NM_003482.4(KMT2D):c.9703_9704del (p.Lys3235fs) rs1555190324
NM_003482.4(KMT2D):c.9716del (p.Ser3239fs)
NM_003482.4(KMT2D):c.9773del (p.Lys3258fs) rs2120482282
NM_003482.4(KMT2D):c.9824dup (p.Gln3276fs) rs2120481036
NM_003482.4(KMT2D):c.9947del (p.Gly3316fs) rs1592129138
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512

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