ClinVar Miner

List of variants reported as likely pathogenic for Kabuki syndrome 1

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Total variants: 124
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HGVS dbSNP
NM_003482.3(KMT2D):c.10090C>T (p.Gln3364Ter) rs1210590639
NM_003482.3(KMT2D):c.10378C>T (p.Gln3460Ter) rs1555189450
NM_003482.3(KMT2D):c.10440+2T>G rs1555189421
NM_003482.3(KMT2D):c.10653dup (p.Ala3552Serfs) rs763440821
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11422delG (p.Ala3808Leufs) rs1555188704
NM_003482.3(KMT2D):c.1143delC (p.Thr382Leufs) rs1064796125
NM_003482.3(KMT2D):c.11456delG (p.Gly3819Alafs) rs1555188687
NM_003482.3(KMT2D):c.11472_11473delCA (p.His3824Glnfs) rs1555188670
NM_003482.3(KMT2D):c.11635_11636delAG (p.Leu3880Aspfs) rs1555188561
NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.3(KMT2D):c.11710C>T (p.Gln3904Ter) rs1555188537
NM_003482.3(KMT2D):c.11739delG (p.Gln3913Hisfs) rs1555188520
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.11796_11813delACAGCAGCAACAGCAGCA (p.Gln3934_Gln3939del) rs759803583
NM_003482.3(KMT2D):c.11800C>T (p.Gln3934Ter) rs1555188469
NM_003482.3(KMT2D):c.11848C>T (p.Gln3950Ter) rs1555188430
NM_003482.3(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.3(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.3(KMT2D):c.12546_12547insG (p.Gln4183Alafs) rs1555188026
NM_003482.3(KMT2D):c.125C>T (p.Ser42Phe) rs1555198886
NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter) rs793888511
NM_003482.3(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) rs587783686
NM_003482.3(KMT2D):c.13026_13027dup (p.Thr4343Argfs) rs1555187741
NM_003482.3(KMT2D):c.13213C>T (p.Gln4405Ter) rs1555187575
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444Argfs) rs587783689
NM_003482.3(KMT2D):c.13346delT (p.Leu4449Profs) rs1555187485
NM_003482.3(KMT2D):c.13367C>G (p.Ser4456Ter) rs1555187461
NM_003482.3(KMT2D):c.13378_13379insCA (p.His4460Profs) rs1555187452
NM_003482.3(KMT2D):c.1395dup (p.Arg466Thrfs)
NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) rs587783693
NM_003482.3(KMT2D):c.14000-3C>G rs1355372507
NM_003482.3(KMT2D):c.14055_14056delCA (p.His4685Glnfs) rs1555186627
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.3(KMT2D):c.14469delC (p.Ala4824Profs) rs1555186257
NM_003482.3(KMT2D):c.14515+1G>A rs1555186232
NM_003482.3(KMT2D):c.14515+1G>T rs1555186232
NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter) rs793888513
NM_003482.3(KMT2D):c.14669_14672delCTCA (p.Thr4890Serfs) rs1555186087
NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.3(KMT2D):c.14722delG (p.Ala4908Profs) rs1555186044
NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu) rs183347186
NM_003482.3(KMT2D):c.14833delCinsAA (p.Pro4945Asnfs) rs1555185978
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.15235_15238delAATG (p.Asn5079Trpfs) rs793888514
NM_003482.3(KMT2D):c.15286C>T (p.Gln5096Ter) rs1555185817
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15583C>T (p.Gln5195Ter) rs1555185699
NM_003482.3(KMT2D):c.15731_15732delAA (p.Lys5244Serfs) rs1555185610
NM_003482.3(KMT2D):c.15920_15921insT (p.Leu5308Thrfs) rs1555185301
NM_003482.3(KMT2D):c.16019G>A (p.Arg5340Gln)
NM_003482.3(KMT2D):c.16125delC (p.Tyr5376Thrfs) rs1555184893
NM_003482.3(KMT2D):c.16338+1G>T rs1555184782
NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.3(KMT2D):c.16413-1G>C rs793888515
NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
NM_003482.3(KMT2D):c.16470delA (p.Glu5491Argfs) rs1555184624
NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.1940delC (p.Pro647Hisfs) rs770315135
NM_003482.3(KMT2D):c.2110_2113delGACTinsTC (p.Asp704Serfs) rs1555197101
NM_003482.3(KMT2D):c.2263_2264insC (p.Arg755Profs) rs1555196984
NM_003482.3(KMT2D):c.2389C>G (p.Leu797Val) rs1057518680
NM_003482.3(KMT2D):c.2515G>T (p.Glu839Ter)
NM_003482.3(KMT2D):c.2546C>A (p.Ser849Ter) rs370492566
NM_003482.3(KMT2D):c.2578_2579delCT (p.Leu860Valfs) rs1555196742
NM_003482.3(KMT2D):c.2819C>G (p.Ser940Ter) rs1555196590
NM_003482.3(KMT2D):c.3019_3020delTC (p.Ser1007Profs) rs1555196459
NM_003482.3(KMT2D):c.3649dup (p.Ser1217Lysfs) rs1555196084
NM_003482.3(KMT2D):c.3789_3790delAC (p.Leu1264Alafs) rs1555196016
NM_003482.3(KMT2D):c.4130A>C (p.Gln1377Pro) rs1555195573
NM_003482.3(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) rs398123744
NM_003482.3(KMT2D):c.4214A>G (p.His1405Arg)
NM_003482.3(KMT2D):c.423G>A (p.Trp141Ter) rs1555198640
NM_003482.3(KMT2D):c.4262G>A (p.Gly1421Asp)
NM_003482.3(KMT2D):c.4395dup (p.Lys1466Glnfs) rs1555195118
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.3(KMT2D):c.4710delA (p.Glu1571Serfs) rs1555194822
NM_003482.3(KMT2D):c.474_475delTG (p.Cys158Trpfs) rs1555198590
NM_003482.3(KMT2D):c.4762G>T (p.Glu1588Ter) rs1290729871
NM_003482.3(KMT2D):c.50-1G>T rs1555198921
NM_003482.3(KMT2D):c.5058_5059insA (p.Arg1687Thrfs) rs1555194303
NM_003482.3(KMT2D):c.5124_5125del (p.Arg1709Hisfs) rs886043506
NM_003482.3(KMT2D):c.5135_5136delAG (p.Lys1712Argfs) rs1555194236
NM_003482.3(KMT2D):c.5166delT (p.Ser1722Argfs) rs367537992
NM_003482.3(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.3(KMT2D):c.5597delC (p.Pro1866Glnfs) rs1555193755
NM_003482.3(KMT2D):c.5627_5630delACAG (p.Asp1876Glyfs) rs1555193738
NM_003482.3(KMT2D):c.5908_5915delGACAGCCC (p.Asp1970Leufs) rs398123751
NM_003482.3(KMT2D):c.6594dup (p.Tyr2199Leufs) rs1555192751
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) rs398123753
NM_003482.3(KMT2D):c.6844delC (p.Arg2282Glyfs) rs1555192531
NM_003482.3(KMT2D):c.6955dup (p.Leu2319Profs) rs1555192457
NM_003482.3(KMT2D):c.6966dup (p.Thr2323Aspfs) rs1555192451
NM_003482.3(KMT2D):c.6992delT (p.Leu2331Argfs) rs1555192437
NM_003482.3(KMT2D):c.702delG (p.Pro235Glnfs) rs1555198318
NM_003482.3(KMT2D):c.7282delC (p.Arg2428Glyfs) rs1555192218
NM_003482.3(KMT2D):c.7291_7294delTCTG (p.Ser2431Leufs) rs1555192210
NM_003482.3(KMT2D):c.7426G>T (p.Glu2476Ter) rs1555192113
NM_003482.3(KMT2D):c.7478dup (p.Phe2494Valfs) rs1555192051
NM_003482.3(KMT2D):c.7481dupT (p.Ala2496Serfs) rs35584294
NM_003482.3(KMT2D):c.8027_8028delAG (p.Glu2676Alafs) rs1555191665
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) rs587783728
NM_003482.3(KMT2D):c.8350_8351delAT (p.Met2784Glyfs) rs1555191324
NM_003482.3(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.3(KMT2D):c.8474_8477dup (p.Thr2827Serfs) rs1555191177
NM_003482.3(KMT2D):c.8516C>G (p.Ser2839Ter) rs1555191147
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.8859_8861delGGGinsCA (p.Lys2953Asnfs) rs1555190907
NM_003482.3(KMT2D):c.8952delG (p.Lys2985Serfs) rs1555190806
NM_003482.3(KMT2D):c.9306delT (p.Ala3103Leufs) rs1555190635
NM_003482.3(KMT2D):c.9417delC (p.Lys3140Argfs) rs1555190550
NM_003482.3(KMT2D):c.9595delA (p.Ser3199Alafs) rs1555190391
NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512
NM_021140.3(KDM6A):c.62delA (p.Glu21Glyfs) rs1555957146

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