ClinVar Miner

List of variants in gene KMT2A reported as pathogenic by GeneDx

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10139C>G (p.Ser3380Ter) rs1064797024
NM_001197104.2(KMT2A):c.10171C>T (p.Gln3391Ter) rs1555048203
NM_001197104.2(KMT2A):c.10217C>A (p.Ser3406Ter) rs886039658
NM_001197104.2(KMT2A):c.10550dup (p.Ser3518fs) rs1591286958
NM_001197104.2(KMT2A):c.11001dup (p.Pro3668fs) rs1591292118
NM_001197104.2(KMT2A):c.1104_1114dup (p.Ala372fs) rs2134260133
NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs) rs1949956477
NM_001197104.2(KMT2A):c.126del (p.Pro45fs)
NM_001197104.2(KMT2A):c.1470_1471del (p.Gln491fs) rs1591374532
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs) rs2134153013
NM_001197104.2(KMT2A):c.2068dup (p.Met690fs) rs1555036328
NM_001197104.2(KMT2A):c.2214_2218del (p.Arg738fs) rs2134266780
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2319dup (p.Ser774fs) rs1555036475
NM_001197104.2(KMT2A):c.2348_2349del (p.Ser783fs) rs1064793451
NM_001197104.2(KMT2A):c.2455C>T (p.Gln819Ter)
NM_001197104.2(KMT2A):c.2514del (p.Trp838fs) rs1555036599
NM_001197104.2(KMT2A):c.2619_2620del (p.Ser873fs) rs1591376082
NM_001197104.2(KMT2A):c.2629_2630dup (p.Asp877fs) rs782311054
NM_001197104.2(KMT2A):c.2635G>T (p.Glu879Ter) rs1555036663
NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter) rs1565280934
NM_001197104.2(KMT2A):c.3178_3184delinsCTAGGCTGCAGTGAGCTGTGACTGTGCCACTGTATTGCAGCCTAGGCAACAAAGCAATC (p.Glu1060_Ser1062delinsLeuGlyCysSerGluLeuTer) rs1591379741
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter) rs2134282528
NM_001197104.2(KMT2A):c.3247C>T (p.Arg1083Ter) rs782451966
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.2(KMT2A):c.3473G>C (p.Cys1158Ser) rs1131691503
NM_001197104.2(KMT2A):c.3557A>C (p.Lys1186Thr) rs1555038122
NM_001197104.2(KMT2A):c.3558_3559delinsTT (p.Lys1186_Gln1187delinsAsnTer) rs1131691614
NM_001197104.2(KMT2A):c.3560A>T (p.Gln1187Leu) rs886041881
NM_001197104.2(KMT2A):c.3563G>T (p.Cys1188Phe) rs2134287683
NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg) rs886041875
NM_001197104.2(KMT2A):c.3634+2T>C rs1555038844
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3991C>T (p.Gln1331Ter) rs886041571
NM_001197104.2(KMT2A):c.4012+1G>C rs1555039476
NM_001197104.2(KMT2A):c.4069C>T (p.Gln1357Ter)
NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr) rs1085307857
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.4433del (p.Arg1478fs) rs1064796711
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.4576-1G>C rs563239
NM_001197104.2(KMT2A):c.4706_4707insAAACTCTCTG (p.Cys1569Ter) rs1064795340
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) rs1591266263
NM_001197104.2(KMT2A):c.4988T>A (p.Leu1663Ter) rs1565294188
NM_001197104.2(KMT2A):c.5116del (p.Gln1706fs) rs1064796672
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter) rs1555035511
NM_001197104.2(KMT2A):c.5196dup (p.Ile1733fs) rs1591269240
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter) rs2134357027
NM_001197104.2(KMT2A):c.5621dup (p.Gln1875fs) rs1555043939
NM_001197104.2(KMT2A):c.5788del (p.Arg1930fs)
NM_001197104.2(KMT2A):c.5804_5817dup (p.Gln1940fs) rs1591274900
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=) rs1555044758
NM_001197104.2(KMT2A):c.6305del (p.Pro2102fs) rs1555045506
NM_001197104.2(KMT2A):c.6379C>T (p.Arg2127Ter)
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001197104.2(KMT2A):c.6764C>A (p.Ser2255Ter) rs1064796862
NM_001197104.2(KMT2A):c.7071del (p.Ser2358fs) rs1591281225
NM_001197104.2(KMT2A):c.7124del (p.His2374_Leu2375insTer) rs1591281317
NM_001197104.2(KMT2A):c.7226_7237delinsTTATG (p.Gly2409fs) rs1591281522
NM_001197104.2(KMT2A):c.7349del (p.Leu2450fs) rs1591281736
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001197104.2(KMT2A):c.7726_7729del (p.Pro2576fs) rs1555046764
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.2(KMT2A):c.839_843del (p.Pro280fs)
NM_001197104.2(KMT2A):c.8454del (p.Ser2819fs) rs1591283456
NM_001197104.2(KMT2A):c.8570T>A (p.Leu2857Gln) rs1057520696
NM_001197104.2(KMT2A):c.8864_8868del (p.Ile2955fs) rs886041947
NM_001197104.2(KMT2A):c.8874_8875del (p.Lys2961fs) rs2134401291
NM_001197104.2(KMT2A):c.9103C>T (p.Gln3035Ter)
NM_001197104.2(KMT2A):c.9133C>T (p.Gln3045Ter) rs1085307772
NM_001197104.2(KMT2A):c.9139C>T (p.Gln3047Ter) rs1555047532
NM_001197104.2(KMT2A):c.9383del (p.Met3128fs) rs1555047647
NM_001197104.2(KMT2A):c.9565delinsGAAGGC (p.Ile3189fs) rs1591285040
NM_001197104.2(KMT2A):c.9694C>T (p.Arg3232Ter) rs782690725
NM_001197104.2(KMT2A):c.9768_9769del (p.Leu3257fs) rs1591285326
NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter) rs2134408087
NM_001197104.2(KMT2A):c.9910_9911del (p.Leu3304fs) rs886041834
NM_001197104.2(KMT2A):c.9921del (p.Ser3308fs) rs1591285545

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