ClinVar Miner

List of variants in gene KMT2D reported by ITMI

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP
NM_003482.3(KMT2D):c.10024C>T (p.Arg3342Cys) rs371869550
NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) rs80149580
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.1057C>A (p.Gln353Lys) rs587778487
NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589
NM_003482.3(KMT2D):c.10987G>A (p.Ala3663Thr) rs587778476
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.11120G>A (p.Arg3707Gln) rs587778477
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673
NM_003482.3(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880
NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195
NM_003482.3(KMT2D):c.11875C>A (p.Gln3959Lys) rs587778473
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12139G>A (p.Gly4047Arg) rs587778478
NM_003482.3(KMT2D):c.12800C>T (p.Pro4267Leu) rs587778474
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.12980G>A (p.Ser4327Asn) rs587778479
NM_003482.3(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13081G>A (p.Ala4361Thr) rs201938646
NM_003482.3(KMT2D):c.13220T>C (p.Val4407Ala) rs185126345
NM_003482.3(KMT2D):c.13582G>A (p.Ala4528Thr) rs587778480
NM_003482.3(KMT2D):c.13796C>T (p.Ala4599Val) rs577303074
NM_003482.3(KMT2D):c.13817A>G (p.Tyr4606Cys) rs587778481
NM_003482.3(KMT2D):c.13969T>C (p.Ser4657Pro) rs587778482
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210
NM_003482.3(KMT2D):c.14749C>T (p.Pro4917Ser) rs587778485
NM_003482.3(KMT2D):c.15011A>T (p.Glu5004Val) rs587778484
NM_003482.3(KMT2D):c.15317G>A (p.Arg5106His) rs587778486
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.1579C>T (p.Pro527Ser) rs587778450
NM_003482.3(KMT2D):c.1672C>T (p.Pro558Ser) rs587778451
NM_003482.3(KMT2D):c.1677_1703del (p.Glu560_Glu568del) rs587778448
NM_003482.3(KMT2D):c.191G>A (p.Arg64Gln) rs587778462
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.3(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453
NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) rs587778449
NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003482.3(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566
NM_003482.3(KMT2D):c.2656C>A (p.Pro886Thr) rs199946966
NM_003482.3(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.3(KMT2D):c.3180_3181delinsTT (p.Lys1060_Val1061delinsAsnLeu) rs587778454
NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3902A>G (p.Lys1301Arg) rs587778455
NM_003482.3(KMT2D):c.3993_3995del (p.Thr1332del) rs587778456
NM_003482.3(KMT2D):c.4030A>G (p.Ile1344Val) rs574134747
NM_003482.3(KMT2D):c.5129C>T (p.Thr1710Met) rs587778457
NM_003482.3(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458
NM_003482.3(KMT2D):c.5386C>T (p.Arg1796Trp) rs186948725
NM_003482.3(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512
NM_003482.3(KMT2D):c.5504G>T (p.Arg1835Leu) rs368134008
NM_003482.3(KMT2D):c.553C>T (p.Arg185Cys) rs201796530
NM_003482.3(KMT2D):c.5546G>A (p.Gly1849Glu) rs587778459
NM_003482.3(KMT2D):c.5732C>A (p.Thr1911Asn) rs587778460
NM_003482.3(KMT2D):c.5753G>A (p.Arg1918His) rs587778461
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6317T>C (p.Ile2106Thr) rs587778467
NM_003482.3(KMT2D):c.6319C>A (p.Pro2107Thr) rs201977719
NM_003482.3(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463
NM_003482.3(KMT2D):c.6445T>C (p.Ser2149Pro) rs587778468
NM_003482.3(KMT2D):c.6505G>A (p.Ala2169Thr) rs369501280
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744
NM_003482.3(KMT2D):c.6740C>G (p.Pro2247Arg) rs587778464
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471
NM_003482.3(KMT2D):c.6812C>T (p.Pro2271Leu) rs587778465
NM_003482.3(KMT2D):c.6832T>G (p.Phe2278Val) rs587778469
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_003482.3(KMT2D):c.6901C>T (p.Pro2301Ser) rs200681496
NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626
NM_003482.3(KMT2D):c.7229G>A (p.Arg2410Gln) rs587778466
NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) rs376603595
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.8006T>G (p.Met2669Arg) rs372520829
NM_003482.3(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.3(KMT2D):c.8695G>A (p.Gly2899Ser) rs587778472
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003482.3(KMT2D):c.9418A>G (p.Lys3140Glu) rs587778470
NM_003482.3(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827
NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.