ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance for not provided

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Gene type:
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Total variants: 193
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HGVS dbSNP
NM_003482.3(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957
NM_003482.3(KMT2D):c.10165A>G (p.Met3389Val)
NM_003482.3(KMT2D):c.10192A>C (p.Met3398Leu) rs75937132
NM_003482.3(KMT2D):c.10232-4C>G rs886043599
NM_003482.3(KMT2D):c.10259T>C (p.Ile3420Thr) rs1555189538
NM_003482.3(KMT2D):c.10440+5G>C rs1555189416
NM_003482.3(KMT2D):c.10445G>A (p.Arg3482Gln) rs371223664
NM_003482.3(KMT2D):c.10741-7A>G rs550510739
NM_003482.3(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797
NM_003482.3(KMT2D):c.10850T>G (p.Leu3617Arg) rs794727609
NM_003482.3(KMT2D):c.10889A>G (p.Lys3630Arg) rs794727608
NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589
NM_003482.3(KMT2D):c.11037A>G (p.Gln3679=) rs374418866
NM_003482.3(KMT2D):c.1112+19C>T rs398123703
NM_003482.3(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705
NM_003482.3(KMT2D):c.11162_11167TGCAGC[3] (p.3721_3722LQ[3]) rs771711980
NM_003482.3(KMT2D):c.11180G>A (p.Arg3727His)
NM_003482.3(KMT2D):c.11202_11204GCA[5] (p.Gln3744_Gln3745del) rs398123707
NM_003482.3(KMT2D):c.11223_11234del (p.Gln3742_Gln3745del) rs1565778883
NM_003482.3(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174
NM_003482.3(KMT2D):c.11304T>C (p.Ala3768=) rs771212750
NM_003482.3(KMT2D):c.11342G>C (p.Ser3781Thr) rs368670448
NM_003482.3(KMT2D):c.11401A>C (p.Met3801Leu)
NM_003482.3(KMT2D):c.1149C>T (p.Asp383=) rs201709328
NM_003482.3(KMT2D):c.11702_11704AGC[6] (p.Gln3905dup) rs1565777394
NM_003482.3(KMT2D):c.11718_11759dup (p.3903_3916QQQLQQQQQLQQQQ[3]) rs754086811
NM_003482.3(KMT2D):c.11738_11740AGC[8] (p.Gln3919dup) rs1555188499
NM_003482.3(KMT2D):c.11829_11831GCA[2] (p.Gln3947del) rs1027832047
NM_003482.3(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del) rs886042299
NM_003482.3(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989
NM_003482.3(KMT2D):c.12039A>G (p.Gly4013=) rs567323882
NM_003482.3(KMT2D):c.12136G>A (p.Gly4046Arg) rs1565775707
NM_003482.3(KMT2D):c.12172A>G (p.Met4058Val) rs398123710
NM_003482.3(KMT2D):c.12261C>G (p.Ser4087Arg) rs727503982
NM_003482.3(KMT2D):c.12579G>A (p.Thr4193=) rs398123713
NM_003482.3(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999
NM_003482.3(KMT2D):c.12650_12652AGC[7] (p.Gln4220_Gln4221dup) rs754290613
NM_003482.3(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714
NM_003482.3(KMT2D):c.12728A>C (p.Tyr4243Ser) rs886044194
NM_003482.3(KMT2D):c.1305C>T (p.Asn435=) rs1296595611
NM_003482.3(KMT2D):c.13118G>A (p.Gly4373Asp)
NM_003482.3(KMT2D):c.13437G>T (p.Gly4479=) rs727503981
NM_003482.3(KMT2D):c.13587C>A (p.Ser4529Arg) rs398123717
NM_003482.3(KMT2D):c.13588G>A (p.Asp4530Asn) rs768143170
NM_003482.3(KMT2D):c.13671+14A>C rs775862454
NM_003482.3(KMT2D):c.13685T>C (p.Leu4562Pro) rs1555187179
NM_003482.3(KMT2D):c.13740C>G (p.Gly4580=) rs398123718
NM_003482.3(KMT2D):c.1378C>A (p.Pro460Thr) rs201089405
NM_003482.3(KMT2D):c.13797G>A (p.Ala4599=) rs727503980
NM_003482.3(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.3(KMT2D):c.13898C>T (p.Ser4633Leu) rs373146997
NM_003482.3(KMT2D):c.13997G>T (p.Arg4666Met)
NM_003482.3(KMT2D):c.14185C>T (p.Arg4729Trp) rs398123719
NM_003482.3(KMT2D):c.14474G>A (p.Arg4825Gln)
NM_003482.3(KMT2D):c.14643+12G>A rs186670730
NM_003482.3(KMT2D):c.1488G>A (p.Pro496=) rs534236560
NM_003482.3(KMT2D):c.14984C>G (p.Thr4995Ser) rs886042207
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15157_15162GACCTG[1] (p.5053_5054DL[1]) rs398123725
NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.3(KMT2D):c.15230T>G (p.Leu5077Arg) rs398123726
NM_003482.3(KMT2D):c.15273G>A (p.Lys5091=) rs398123727
NM_003482.3(KMT2D):c.15274T>C (p.Cys5092Arg) rs886044678
NM_003482.3(KMT2D):c.15559G>C (p.Ala5187Pro) rs775954885
NM_003482.3(KMT2D):c.15640C>A (p.Arg5214Ser) rs398123728
NM_003482.3(KMT2D):c.15649T>C (p.Trp5217Arg) rs398123730
NM_003482.3(KMT2D):c.1568C>T (p.Pro523Leu)
NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058
NM_003482.3(KMT2D):c.15787G>A (p.Val5263Met) rs398123731
NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.3(KMT2D):c.16299C>T (p.Asn5433=)
NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.3(KMT2D):c.16487T>G (p.Ile5496Ser) rs727503978
NM_003482.3(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.3(KMT2D):c.16522-4T>G rs779139301
NM_003482.3(KMT2D):c.1779A>G (p.Pro593=) rs886042877
NM_003482.3(KMT2D):c.1781C>T (p.Pro594Leu) rs190079343
NM_003482.3(KMT2D):c.1797G>A (p.Leu599=) rs113282510
NM_003482.3(KMT2D):c.1859C>G (p.Pro620Arg) rs369076375
NM_003482.3(KMT2D):c.1868_1948del (p.Ala623_Glu649del) rs1565818774
NM_003482.3(KMT2D):c.192G>A (p.Arg64=) rs375169999
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.2091_2094delinsTATG (p.Thr698Met) rs1565818194
NM_003482.3(KMT2D):c.2214C>T (p.Ser738=) rs201219613
NM_003482.3(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453
NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) rs200155807
NM_003482.3(KMT2D):c.2232_2258del (p.746_754RPEEPHLSP[1]) rs398123736
NM_003482.3(KMT2D):c.2232_2258dup (p.746_754RPEEPHLSP[3]) rs398123736
NM_003482.3(KMT2D):c.2264G>A (p.Arg755Gln)
NM_003482.3(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077
NM_003482.3(KMT2D):c.2373G>A (p.Gln791=) rs398123737
NM_003482.3(KMT2D):c.2404_2405delinsCG (p.Glu802Arg) rs1565816786
NM_003482.3(KMT2D):c.2428_2508del (p.Thr810_Gln836del) rs1555196792
NM_003482.3(KMT2D):c.2547G>A (p.Ser849=) rs398123738
NM_003482.3(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.3(KMT2D):c.2582C>G (p.Ser861Cys) rs398123739
NM_003482.3(KMT2D):c.2646G>A (p.Leu882=)
NM_003482.3(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) rs369436545
NM_003482.3(KMT2D):c.2860T>C (p.Leu954=) rs398123740
NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.3(KMT2D):c.299G>C (p.Gly100Ala) rs371058953
NM_003482.3(KMT2D):c.3343T>C (p.Phe1115Leu) rs886042898
NM_003482.3(KMT2D):c.3405A>G (p.Pro1135=) rs886042311
NM_003482.3(KMT2D):c.3546T>G (p.Cys1182Trp) rs398123742
NM_003482.3(KMT2D):c.3641G>A (p.Gly1214Asp) rs886042736
NM_003482.3(KMT2D):c.376C>G (p.Pro126Ala) rs1311872208
NM_003482.3(KMT2D):c.3889C>T (p.Arg1297Cys) rs746084513
NM_003482.3(KMT2D):c.3893C>A (p.Ser1298Tyr) rs760144885
NM_003482.3(KMT2D):c.3906+20C>T rs375504464
NM_003482.3(KMT2D):c.4056G>A (p.Glu1352=) rs373063485
NM_003482.3(KMT2D):c.4132-3C>T rs1565809663
NM_003482.3(KMT2D):c.4342T>A (p.Cys1448Ser) rs398123746
NM_003482.3(KMT2D):c.4342T>C (p.Cys1448Arg) rs398123746
NM_003482.3(KMT2D):c.4414A>G (p.Lys1472Glu) rs794727144
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.3(KMT2D):c.4570C>T (p.Arg1524Cys) rs1411795103
NM_003482.3(KMT2D):c.4642G>A (p.Asp1548Asn) rs774736686
NM_003482.3(KMT2D):c.4742-5T>G rs201912948
NM_003482.3(KMT2D):c.4745C>G (p.Pro1582Arg) rs370444484
NM_003482.3(KMT2D):c.477T>G (p.Gly159=) rs398123747
NM_003482.3(KMT2D):c.4813A>T (p.Met1605Leu) rs1279209449
NM_003482.3(KMT2D):c.4986C>T (p.Cys1662=) rs143063879
NM_003482.3(KMT2D):c.5084-27C>T rs398123748
NM_003482.3(KMT2D):c.5124A>G (p.Thr1708=) rs374724784
NM_003482.3(KMT2D):c.5142T>G (p.Pro1714=) rs794727341
NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) rs201686029
NM_003482.3(KMT2D):c.5248_5250del (p.Glu1750del) rs1403096314
NM_003482.3(KMT2D):c.5319+3G>A rs372897046
NM_003482.3(KMT2D):c.5503C>T (p.Arg1835Cys) rs371685892
NM_003482.3(KMT2D):c.5526T>C (p.Asp1842=) rs137955659
NM_003482.3(KMT2D):c.559C>T (p.Pro187Ser)
NM_003482.3(KMT2D):c.5645-17C>T rs398123749
NM_003482.3(KMT2D):c.5755A>G (p.Thr1919Ala) rs1555193607
NM_003482.3(KMT2D):c.5892G>A (p.Pro1964=) rs761930376
NM_003482.3(KMT2D):c.5899G>A (p.Gly1967Ser) rs886042896
NM_003482.3(KMT2D):c.6204G>A (p.Arg2068=) rs532098737
NM_003482.3(KMT2D):c.6235-6C>G rs373858319
NM_003482.3(KMT2D):c.6264C>T (p.Thr2088=) rs370414767
NM_003482.3(KMT2D):c.6266A>T (p.Lys2089Met) rs398123752
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6345C>T (p.Ser2115=) rs368856357
NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) rs377392943
NM_003482.3(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831
NM_003482.3(KMT2D):c.6434C>T (p.Pro2145Leu)
NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) rs374077422
NM_003482.3(KMT2D):c.6456C>T (p.Gly2152=) rs727503985
NM_003482.3(KMT2D):c.6649C>T (p.Arg2217Cys) rs770789888
NM_003482.3(KMT2D):c.6699C>T (p.Thr2233=) rs398123754
NM_003482.3(KMT2D):c.6739C>T (p.Pro2247Ser) rs794727547
NM_003482.3(KMT2D):c.690A>C (p.Ala230=)
NM_003482.3(KMT2D):c.6978C>G (p.Val2326=) rs398123755
NM_003482.3(KMT2D):c.7000C>T (p.Arg2334Trp) rs1196495584
NM_003482.3(KMT2D):c.7018C>T (p.Pro2340Ser) rs1297761342
NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) rs398123756
NM_003482.3(KMT2D):c.7078C>G (p.Pro2360Ala)
NM_003482.3(KMT2D):c.7109G>A (p.Arg2370His) rs373234419
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.3(KMT2D):c.7201C>T (p.Arg2401Cys) rs748969699
NM_003482.3(KMT2D):c.7229G>A (p.Arg2410Gln) rs587778466
NM_003482.3(KMT2D):c.7251C>T (p.Ser2417=) rs759825289
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7379G>A (p.Arg2460His) rs774358086
NM_003482.3(KMT2D):c.7456C>T (p.His2486Tyr) rs1292048668
NM_003482.3(KMT2D):c.756C>T (p.His252=) rs398123759
NM_003482.3(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014
NM_003482.3(KMT2D):c.7629G>A (p.Gly2543=) rs201357509
NM_003482.3(KMT2D):c.7710C>T (p.Pro2570=) rs727503984
NM_003482.3(KMT2D):c.772A>C (p.Thr258Pro) rs1565823019
NM_003482.3(KMT2D):c.7764C>G (p.His2588Gln) rs886043697
NM_003482.3(KMT2D):c.7795G>A (p.Gly2599Arg) rs398123760
NM_003482.3(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047
NM_003482.3(KMT2D):c.7839G>A (p.Pro2613=) rs370627714
NM_003482.3(KMT2D):c.7934G>A (p.Arg2645Gln) rs375980443
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.8090G>A (p.Arg2697His) rs774178055
NM_003482.3(KMT2D):c.8288C>T (p.Pro2763Leu) rs398123762
NM_003482.3(KMT2D):c.8382C>A (p.Gly2794=) rs368967997
NM_003482.3(KMT2D):c.840-6C>T rs182926808
NM_003482.3(KMT2D):c.8489G>A (p.Arg2830Gln) rs1271513534
NM_003482.3(KMT2D):c.8507G>A (p.Arg2836His) rs886202729
NM_003482.3(KMT2D):c.8578C>T (p.Arg2860Cys) rs201681639
NM_003482.3(KMT2D):c.878C>T (p.Thr293Met) rs794727860
NM_003482.3(KMT2D):c.8924G>A (p.Arg2975His) rs770885860
NM_003482.3(KMT2D):c.9212G>A (p.Arg3071Lys) rs794727574
NM_003482.3(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754
NM_003482.3(KMT2D):c.9474G>C (p.Gln3158His) rs770522446
NM_003482.3(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827
NM_003482.3(KMT2D):c.9502A>G (p.Met3168Val) rs749463020
NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717
NM_003482.3(KMT2D):c.9803C>T (p.Ala3268Val) rs1555190288
NM_003482.3(KMT2D):c.9837_9839GCA[5] (p.Gln3282dup)
NM_003482.3(KMT2D):c.9843_9844delinsCT (p.Gln3281_Gln3282delinsHisTer) rs1565785981

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