ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.6945C>G (p.His2315Gln) rs764686162 0.00015
NM_003482.4(KMT2D):c.6998C>T (p.Pro2333Leu) rs377504041 0.00012
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.2531C>T (p.Pro844Leu) rs1338543181 0.00005
NM_003482.4(KMT2D):c.8519C>T (p.Thr2840Ile) rs769247460 0.00005
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253 0.00004
NM_003482.4(KMT2D):c.12893C>T (p.Thr4298Ile) rs377128722 0.00004
NM_003482.4(KMT2D):c.5231G>A (p.Ser1744Asn) rs377119237 0.00004
NM_003482.4(KMT2D):c.7831C>T (p.Arg2611Cys) rs572359740 0.00004
NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp) rs370155635 0.00004
NM_003482.4(KMT2D):c.12848C>G (p.Pro4283Arg) rs768584961 0.00003
NM_003482.4(KMT2D):c.15908G>A (p.Arg5303His) rs369156879 0.00003
NM_003482.4(KMT2D):c.1631C>T (p.Pro544Leu) rs1363790866 0.00003
NM_003482.4(KMT2D):c.13568A>G (p.Lys4523Arg) rs752523300 0.00002
NM_003482.4(KMT2D):c.13859C>T (p.Pro4620Leu) rs769173788 0.00002
NM_003482.4(KMT2D):c.15071A>G (p.Lys5024Arg) rs761129445 0.00002
NM_003482.4(KMT2D):c.15560C>G (p.Ala5187Gly) rs770452569 0.00002
NM_003482.4(KMT2D):c.2110G>T (p.Asp704Tyr) rs761977604 0.00002
NM_003482.4(KMT2D):c.7708C>T (p.Pro2570Ser) rs1041805872 0.00002
NM_003482.4(KMT2D):c.9431C>T (p.Ala3144Val) rs558965718 0.00002
NM_003482.4(KMT2D):c.10930C>T (p.Pro3644Ser) rs1943074670 0.00001
NM_003482.4(KMT2D):c.1100C>T (p.Pro367Leu) rs547979245 0.00001
NM_003482.4(KMT2D):c.12281C>G (p.Pro4094Arg) rs755712137 0.00001
NM_003482.4(KMT2D):c.12364G>A (p.Gly4122Arg) rs1326879451 0.00001
NM_003482.4(KMT2D):c.12977C>G (p.Pro4326Arg) rs1038898344 0.00001
NM_003482.4(KMT2D):c.13321G>T (p.Gly4441Trp) rs1276622338 0.00001
NM_003482.4(KMT2D):c.13736T>C (p.Phe4579Ser) rs376335760 0.00001
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) rs1188206999 0.00001
NM_003482.4(KMT2D):c.15323G>A (p.Arg5108His) rs1214099522 0.00001
NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser) rs943690439 0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) rs745599611 0.00001
NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr) rs1196290590 0.00001
NM_003482.4(KMT2D):c.448T>C (p.Trp150Arg) rs764606893 0.00001
NM_003482.4(KMT2D):c.4642G>A (p.Asp1548Asn) rs774736686 0.00001
NM_003482.4(KMT2D):c.5065C>T (p.Arg1689Cys) rs761386159 0.00001
NM_003482.4(KMT2D):c.5192T>C (p.Ile1731Thr) rs970144947 0.00001
NM_003482.4(KMT2D):c.5407A>G (p.Thr1803Ala) rs1217603879 0.00001
NM_003482.4(KMT2D):c.6122G>A (p.Arg2041His) rs1943555244 0.00001
NM_003482.4(KMT2D):c.620T>A (p.Met207Lys) rs757625928 0.00001
NM_003482.4(KMT2D):c.621G>A (p.Met207Ile) rs1296202170 0.00001
NM_003482.4(KMT2D):c.6223A>C (p.Lys2075Gln) rs1449262096 0.00001
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His) rs374216845 0.00001
NM_003482.4(KMT2D):c.6490C>T (p.Pro2164Ser) rs1310334856 0.00001
NM_003482.4(KMT2D):c.6647C>T (p.Ser2216Phe) rs1466593517 0.00001
NM_003482.4(KMT2D):c.6907A>G (p.Asn2303Asp) rs1364217370 0.00001
NM_003482.4(KMT2D):c.6929C>A (p.Pro2310His) rs752346893 0.00001
NM_003482.4(KMT2D):c.7205C>T (p.Ser2402Leu) rs750003992 0.00001
NM_003482.4(KMT2D):c.7220C>T (p.Pro2407Leu) rs557710295 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_003482.4(KMT2D):c.7595C>T (p.Ser2532Phe) rs749781307 0.00001
NM_003482.4(KMT2D):c.7724C>T (p.Pro2575Leu) rs533854462 0.00001
NM_003482.3(KMT2D):c.13672_13674dup rs938922279
NM_003482.4(KMT2D):c.10255G>T (p.Asp3419Tyr) rs2120462024
NM_003482.4(KMT2D):c.10259T>C (p.Ile3420Thr) rs1555189538
NM_003482.4(KMT2D):c.1031C>G (p.Ser344Cys)
NM_003482.4(KMT2D):c.10440+5G>C rs1555189416
NM_003482.4(KMT2D):c.10471C>T (p.Arg3491Cys) rs902898516
NM_003482.4(KMT2D):c.10514C>G (p.Ala3505Gly)
NM_003482.4(KMT2D):c.10741-11T>A rs2120449619
NM_003482.4(KMT2D):c.10787G>C (p.Arg3596Pro) rs532898944
NM_003482.4(KMT2D):c.10835_10836delinsGA (p.Gln3612Arg)
NM_003482.4(KMT2D):c.10889A>G (p.Lys3630Arg) rs794727608
NM_003482.4(KMT2D):c.11009G>A (p.Gly3670Asp)
NM_003482.4(KMT2D):c.11077G>C (p.Ala3693Pro) rs2120444668
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3]) rs771711980
NM_003482.4(KMT2D):c.11233_11277dup (p.Gln3759_Gly3760insGlnHisLeuLeuGlyGlnValAlaIleGlnGlnGlnGlnGlnGln)
NM_003482.4(KMT2D):c.11332C>G (p.Pro3778Ala)
NM_003482.4(KMT2D):c.11359G>A (p.Val3787Ile)
NM_003482.4(KMT2D):c.11470C>T (p.His3824Tyr) rs2120441029
NM_003482.4(KMT2D):c.11470_11471delinsAT (p.His3824Ile) rs1555188671
NM_003482.4(KMT2D):c.11513C>G (p.Pro3838Arg) rs1273887681
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup) rs944680171
NM_003482.4(KMT2D):c.11718_11759del (p.3903QQQLQQQQQLQQQQ[1])
NM_003482.4(KMT2D):c.11738AGC[5] (p.Gln3918_Gln3919del) rs576788910
NM_003482.4(KMT2D):c.11792_11809del (p.Leu3931_Gln3936del) rs752843878
NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.1183C>A (p.Gln395Lys)
NM_003482.4(KMT2D):c.11843_11851dup (p.Gln3950_Gln3951insLeuGlnGln) rs2120435474
NM_003482.4(KMT2D):c.11843_11860del (p.Leu3948_Gln3953del) rs762810380
NM_003482.4(KMT2D):c.11871GCAACA[3] (p.Gln3964_Gln3965dup) rs748029700
NM_003482.4(KMT2D):c.11876A>C (p.Gln3959Pro)
NM_003482.4(KMT2D):c.11896_11922del (p.Phe3966_Gln3974del) rs746481249
NM_003482.4(KMT2D):c.11975A>G (p.Gln3992Arg)
NM_003482.4(KMT2D):c.12139G>A (p.Gly4047Arg) rs587778478
NM_003482.4(KMT2D):c.12160A>C (p.Thr4054Pro)
NM_003482.4(KMT2D):c.12161C>G (p.Thr4054Ser)
NM_003482.4(KMT2D):c.12259A>C (p.Ser4087Arg)
NM_003482.4(KMT2D):c.12323T>C (p.Leu4108Pro) rs1942963597
NM_003482.4(KMT2D):c.12371C>T (p.Ser4124Phe) rs2120430413
NM_003482.4(KMT2D):c.12470_12484del (p.Gln4157_Glu4161del)
NM_003482.4(KMT2D):c.12545G>T (p.Gly4182Val) rs1332191547
NM_003482.4(KMT2D):c.12549G>T (p.Gln4183His)
NM_003482.4(KMT2D):c.12635_12636delinsTT (p.Arg4212Leu) rs2120427887
NM_003482.4(KMT2D):c.12650AGC[7] (p.Gln4220_Gln4221dup) rs754290613
NM_003482.4(KMT2D):c.1268G>A (p.Gly423Glu) rs944542233
NM_003482.4(KMT2D):c.12755C>T (p.Pro4252Leu) rs2120426646
NM_003482.4(KMT2D):c.13012C>T (p.Pro4338Ser)
NM_003482.4(KMT2D):c.13019A>T (p.His4340Leu) rs770911238
NM_003482.4(KMT2D):c.13141G>T (p.Asp4381Tyr) rs2120421241
NM_003482.4(KMT2D):c.13316C>T (p.Pro4439Leu)
NM_003482.4(KMT2D):c.13373C>T (p.Ala4458Val)
NM_003482.4(KMT2D):c.13402C>T (p.Arg4468Trp) rs761717148
NM_003482.4(KMT2D):c.1353ACC[1] (p.Pro453del)
NM_003482.4(KMT2D):c.13687C>T (p.Pro4563Ser) rs2120407841
NM_003482.4(KMT2D):c.13780G>T (p.Ala4594Ser)
NM_003482.4(KMT2D):c.13789A>G (p.Ser4597Gly)
NM_003482.4(KMT2D):c.137C>G (p.Ser46Cys) rs2120715696
NM_003482.4(KMT2D):c.13834A>T (p.Thr4612Ser) rs747600863
NM_003482.4(KMT2D):c.14009A>T (p.Glu4670Val) rs2120398228
NM_003482.4(KMT2D):c.14069A>T (p.Asp4690Val)
NM_003482.4(KMT2D):c.14093A>T (p.Asp4698Val) rs2120394338
NM_003482.4(KMT2D):c.14167C>T (p.Pro4723Ser)
NM_003482.4(KMT2D):c.14177G>A (p.Gly4726Asp) rs748432945
NM_003482.4(KMT2D):c.1419A>T (p.Glu473Asp) rs2120684188
NM_003482.4(KMT2D):c.14216C>T (p.Pro4739Leu) rs2120391629
NM_003482.4(KMT2D):c.14345T>C (p.Val4782Ala)
NM_003482.4(KMT2D):c.14429A>G (p.Lys4810Arg) rs2120379085
NM_003482.4(KMT2D):c.14446G>C (p.Glu4816Gln) rs1942699535
NM_003482.4(KMT2D):c.14467C>T (p.Pro4823Ser)
NM_003482.4(KMT2D):c.14470G>C (p.Ala4824Pro)
NM_003482.4(KMT2D):c.14662C>T (p.Pro4888Ser)
NM_003482.4(KMT2D):c.14740C>A (p.Pro4914Thr) rs750101930
NM_003482.4(KMT2D):c.14873C>T (p.Ser4958Leu)
NM_003482.4(KMT2D):c.14897G>A (p.Arg4966Gln) rs2120367082
NM_003482.4(KMT2D):c.14990A>T (p.Gln4997Leu) rs2120365550
NM_003482.4(KMT2D):c.15175C>T (p.His5059Tyr) rs2120362931
NM_003482.4(KMT2D):c.15182A>C (p.Asn5061Thr) rs1403030708
NM_003482.4(KMT2D):c.15229C>G (p.Leu5077Val) rs2120362253
NM_003482.4(KMT2D):c.15407A>G (p.His5136Arg)
NM_003482.4(KMT2D):c.15457C>T (p.Arg5153Trp) rs761700549
NM_003482.4(KMT2D):c.15533T>A (p.Phe5178Tyr)
NM_003482.4(KMT2D):c.15608C>G (p.Thr5203Ser) rs1942588815
NM_003482.4(KMT2D):c.15617A>C (p.Tyr5206Ser)
NM_003482.4(KMT2D):c.15721T>G (p.Phe5241Val)
NM_003482.4(KMT2D):c.15787G>A (p.Val5263Met) rs398123731
NM_003482.4(KMT2D):c.15889A>T (p.Thr5297Ser) rs2137711517
NM_003482.4(KMT2D):c.15976C>T (p.Leu5326Phe)
NM_003482.4(KMT2D):c.15991C>G (p.Leu5331Val) rs2137710588
NM_003482.4(KMT2D):c.16160A>G (p.Gln5387Arg) rs750674319
NM_003482.4(KMT2D):c.1620_1781del (p.Pro544_Ser597del)
NM_003482.4(KMT2D):c.16267G>T (p.Val5423Phe) rs1942386075
NM_003482.4(KMT2D):c.16310A>G (p.Asn5437Ser) rs2137706291
NM_003482.4(KMT2D):c.16464T>A (p.Phe5488Leu) rs2137703769
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.4(KMT2D):c.16521G>C (p.Glu5507Asp) rs2137703473
NM_003482.4(KMT2D):c.1787C>A (p.Ala596Glu) rs2120678453
NM_003482.4(KMT2D):c.1888C>T (p.Pro630Ser)
NM_003482.4(KMT2D):c.2115_2141del (p.Pro706_Ser714del) rs2120671676
NM_003482.4(KMT2D):c.2232_2258dup (p.746RPEEPHLSP[3]) rs398123736
NM_003482.4(KMT2D):c.2250_2276dup (p.746RPEEPHLSP[3]) rs587778449
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003482.4(KMT2D):c.2281C>A (p.Leu761Ile)
NM_003482.4(KMT2D):c.2332_2358del (p.Cys778_Pro786del) rs764417517
NM_003482.4(KMT2D):c.2370_2396del (p.Ala792_Gln800del)
NM_003482.4(KMT2D):c.2428_2508del (p.Thr810_Gln836del) rs1555196792
NM_003482.4(KMT2D):c.2439_2496delinsATGCCTGTCCCCCCGGCCTGAGGAATCGCAT (p.His814_Gln827delinsCysLeuSerProArg) rs2120665000
NM_003482.4(KMT2D):c.2495A>T (p.His832Leu)
NM_003482.4(KMT2D):c.2603C>G (p.Pro868Arg)
NM_003482.4(KMT2D):c.2674T>C (p.Ser892Pro) rs2120661681
NM_003482.4(KMT2D):c.2712G>A (p.Gly904=)
NM_003482.4(KMT2D):c.2737_2748del (p.Glu913_Pro916del)
NM_003482.4(KMT2D):c.293C>T (p.Ser98Phe)
NM_003482.4(KMT2D):c.3053_3057delinsGAACA (p.Glu1018_Pro1019delinsGlyThr) rs2120652136
NM_003482.4(KMT2D):c.3229A>G (p.Lys1077Glu) rs1008261796
NM_003482.4(KMT2D):c.3232G>A (p.Val1078Ile)
NM_003482.4(KMT2D):c.3310C>T (p.Pro1104Ser) rs2120648259
NM_003482.4(KMT2D):c.3316C>G (p.Pro1106Ala)
NM_003482.4(KMT2D):c.3409C>A (p.Pro1137Thr)
NM_003482.4(KMT2D):c.352A>G (p.Ile118Val)
NM_003482.4(KMT2D):c.374C>A (p.Thr125Lys)
NM_003482.4(KMT2D):c.377C>T (p.Pro126Leu)
NM_003482.4(KMT2D):c.384C>G (p.His128Gln)
NM_003482.4(KMT2D):c.4036A>T (p.Ser1346Cys)
NM_003482.4(KMT2D):c.4165G>T (p.Gly1389Trp)
NM_003482.4(KMT2D):c.4202C>G (p.Ser1401Cys) rs1214991700
NM_003482.4(KMT2D):c.4318T>C (p.Ser1440Pro)
NM_003482.4(KMT2D):c.4339G>T (p.Asp1447Tyr) rs2120611216
NM_003482.4(KMT2D):c.4342T>A (p.Cys1448Ser) rs398123746
NM_003482.4(KMT2D):c.4442G>A (p.Gly1481Glu) rs2120605708
NM_003482.4(KMT2D):c.44C>A (p.Pro15Gln)
NM_003482.4(KMT2D):c.4583+3G>T rs1361575739
NM_003482.4(KMT2D):c.4721C>T (p.Pro1574Leu)
NM_003482.4(KMT2D):c.4733A>G (p.Lys1578Arg) rs2120596360
NM_003482.4(KMT2D):c.4787G>T (p.Gly1596Val) rs2120589514
NM_003482.4(KMT2D):c.487G>A (p.Ala163Thr)
NM_003482.4(KMT2D):c.5101G>T (p.Val1701Leu)
NM_003482.4(KMT2D):c.5201A>G (p.Asp1734Gly) rs1277411705
NM_003482.4(KMT2D):c.5276G>A (p.Arg1759His) rs1592142110
NM_003482.4(KMT2D):c.5380G>C (p.Val1794Leu)
NM_003482.4(KMT2D):c.5387G>A (p.Arg1796Gln)
NM_003482.4(KMT2D):c.5524G>T (p.Asp1842Tyr) rs1399516081
NM_003482.4(KMT2D):c.5542G>A (p.Asp1848Asn) rs1392313479
NM_003482.4(KMT2D):c.5666A>G (p.Lys1889Arg) rs2120560761
NM_003482.4(KMT2D):c.5702C>T (p.Ser1901Phe) rs1943602695
NM_003482.4(KMT2D):c.5755A>G (p.Thr1919Ala) rs1555193607
NM_003482.4(KMT2D):c.5771C>T (p.Pro1924Leu)
NM_003482.4(KMT2D):c.5843G>C (p.Cys1948Ser)
NM_003482.4(KMT2D):c.5849C>T (p.Ser1950Phe) rs1943592771
NM_003482.4(KMT2D):c.5939C>T (p.Thr1980Met)
NM_003482.4(KMT2D):c.5993A>G (p.Tyr1998Cys) rs1292951816
NM_003482.4(KMT2D):c.6074A>T (p.Asn2025Ile) rs746933896
NM_003482.4(KMT2D):c.6088A>G (p.Asn2030Asp)
NM_003482.4(KMT2D):c.6173C>A (p.Ala2058Asp)
NM_003482.4(KMT2D):c.6209C>T (p.Ala2070Val)
NM_003482.4(KMT2D):c.6211C>T (p.His2071Tyr)
NM_003482.4(KMT2D):c.6387_6439delinsACTACCCCCGCCGGCTTGTCTACCTCTGCGGA (p.Thr2130_Ala2147delinsLeuProProProAlaCysLeuProLeuArgThr)
NM_003482.4(KMT2D):c.6401G>C (p.Gly2134Ala)
NM_003482.4(KMT2D):c.6466C>G (p.Pro2156Ala)
NM_003482.4(KMT2D):c.6551C>A (p.Pro2184His)
NM_003482.4(KMT2D):c.6559C>A (p.Pro2187Thr)
NM_003482.4(KMT2D):c.6779G>A (p.Ser2260Asn) rs746355138
NM_003482.4(KMT2D):c.6815T>G (p.Leu2272Arg)
NM_003482.4(KMT2D):c.6842C>T (p.Ser2281Phe)
NM_003482.4(KMT2D):c.7000C>T (p.Arg2334Trp) rs1196495584
NM_003482.4(KMT2D):c.7111C>A (p.Pro2371Thr) rs2120532240
NM_003482.4(KMT2D):c.7123A>G (p.Thr2375Ala)
NM_003482.4(KMT2D):c.7156C>T (p.Arg2386Trp)
NM_003482.4(KMT2D):c.7193T>C (p.Leu2398Pro) rs879792544
NM_003482.4(KMT2D):c.7351T>C (p.Ser2451Pro)
NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr) rs2120520690
NM_003482.4(KMT2D):c.7811G>T (p.Ser2604Ile)
NM_003482.4(KMT2D):c.7841C>G (p.Ser2614Trp)
NM_003482.4(KMT2D):c.7995G>T (p.Gln2665His)
NM_003482.4(KMT2D):c.8060G>A (p.Arg2687Gln)
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln) rs1943386777
NM_003482.4(KMT2D):c.8203G>A (p.Gly2735Ser)
NM_003482.4(KMT2D):c.8257C>T (p.Pro2753Ser)
NM_003482.4(KMT2D):c.8378_8389del (p.Gly2793_Gln2796del)
NM_003482.4(KMT2D):c.8419T>C (p.Ser2807Pro)
NM_003482.4(KMT2D):c.8486T>C (p.Met2829Thr)
NM_003482.4(KMT2D):c.8641C>G (p.Arg2881Gly) rs763549369
NM_003482.4(KMT2D):c.8876C>G (p.Thr2959Ser)
NM_003482.4(KMT2D):c.8986G>A (p.Asp2996Asn) rs756641752
NM_003482.4(KMT2D):c.9194T>A (p.Ile3065Asn) rs1381757467
NM_003482.4(KMT2D):c.9472C>G (p.Gln3158Glu) rs1354914741
NM_003482.4(KMT2D):c.9480G>C (p.Met3160Ile) rs532060823
NM_003482.4(KMT2D):c.94G>C (p.Asp32His) rs2120716122
NM_003482.4(KMT2D):c.9554T>C (p.Phe3185Ser) rs377231704
NM_003482.4(KMT2D):c.9574C>A (p.Pro3192Thr)
NM_003482.4(KMT2D):c.9611C>T (p.Pro3204Leu) rs1298038896
NM_003482.4(KMT2D):c.9617G>T (p.Gly3206Val)
NM_003482.4(KMT2D):c.9803C>T (p.Ala3268Val) rs1555190288
NM_003482.4(KMT2D):c.9885G>A (p.Met3295Ile) rs2120479594
NM_003482.4(KMT2D):c.9905C>T (p.Ser3302Phe)

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