ClinVar Miner

Variants in gene KMT2D with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
4665 259 0 180 211 0 12 360

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 45 4 0 1
likely pathogenic 45 0 9 2 1
uncertain significance 4 9 0 151 91
likely benign 0 2 151 0 135
benign 1 1 91 135 0

All variants with conflicting interpretations #

Total variants: 360
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.13102A>G (p.Thr4368Ala) rs189357192 0.00243
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00200
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) rs201336660 0.00165
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819 0.00085
NM_003482.4(KMT2D):c.1258+3G>A rs368687683 0.00079
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_003482.4(KMT2D):c.6621G>A (p.Ala2207=) rs199896881 0.00077
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_003482.4(KMT2D):c.1259-13G>A rs373466438 0.00074
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val) rs200943206 0.00068
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963 0.00062
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00056
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=) rs377392943 0.00053
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754 0.00053
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) rs189571290 0.00052
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) rs200429063 0.00051
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=) rs370145169 0.00046
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_003482.4(KMT2D):c.3181G>T (p.Val1061Leu) rs200450910 0.00042
NM_003482.4(KMT2D):c.3180G>T (p.Lys1060Asn) rs201568916 0.00041
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala) rs376483324 0.00040
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003482.4(KMT2D):c.10392G>A (p.Gly3464=) rs367726813 0.00036
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003482.4(KMT2D):c.711G>A (p.Glu237=) rs192397485 0.00036
NM_003482.4(KMT2D):c.11826A>G (p.Gln3942=) rs112586166 0.00034
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=) rs374724784 0.00031
NM_003482.4(KMT2D):c.11670C>T (p.Ser3890=) rs376471354 0.00029
NM_003482.4(KMT2D):c.15019C>T (p.Arg5007Trp) rs201855029 0.00029
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050 0.00028
NM_003482.4(KMT2D):c.7607T>C (p.Phe2536Ser) rs199628497 0.00028
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) rs369601017 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_003482.4(KMT2D):c.14635C>T (p.Leu4879=) rs368094058 0.00024
NM_003482.4(KMT2D):c.3045C>T (p.Ile1015=) rs370440607 0.00023
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003482.4(KMT2D):c.5913C>T (p.Ser1971=) rs548965753 0.00021
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) rs201219613 0.00019
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys) rs563335387 0.00018
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.14193G>A (p.Glu4731=) rs368920289 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_003482.4(KMT2D):c.626C>T (p.Thr209Ile) rs373972024 0.00016
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) rs377747403 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr) rs201089405 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_003482.4(KMT2D):c.5319+3G>A rs372897046 0.00014
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
NM_003482.4(KMT2D):c.6998C>T (p.Pro2333Leu) rs377504041 0.00012
NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met) rs770978212 0.00012
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.14643+3A>T rs374232950 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=) rs398123738 0.00011
NM_003482.4(KMT2D):c.5084-17A>G rs368795536 0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met) rs376888531 0.00011
NM_003482.4(KMT2D):c.8813C>T (p.Pro2938Leu) rs142395705 0.00011
NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=) rs375466241 0.00011
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00011
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu) rs767236217 0.00010
NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His) rs373234419 0.00010
NM_003482.4(KMT2D):c.984G>A (p.Ala328=) rs760364650 0.00010
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453 0.00009
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys) rs754060706 0.00009
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935 0.00008
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) rs770522446 0.00008
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.1112+19C>T rs398123703 0.00007
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp) rs542331667 0.00007
NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His) rs566674356 0.00007
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047 0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln) rs772010347 0.00006
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu) rs752477959 0.00006
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=) rs370665309 0.00006
NM_003482.4(KMT2D):c.13531-10T>C rs769029919 0.00006
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr) rs200747934 0.00006
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242 0.00006
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His) rs757247893 0.00005
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003482.4(KMT2D):c.4583+10T>C rs537765057 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) rs368856357 0.00005
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574 0.00005
NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser) rs762567167 0.00005
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253 0.00004
NM_003482.4(KMT2D):c.10741-7A>G rs550510739 0.00004
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00004
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714 0.00004
NM_003482.4(KMT2D):c.1296C>T (p.Ala432=) rs547058856 0.00004
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475 0.00004
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser) rs779247029 0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) rs767232021 0.00004
NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu) rs763729848 0.00004
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=) rs534236560 0.00004
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776 0.00004
NM_003482.4(KMT2D):c.16412+13G>A rs587783701 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.6255C>A (p.Asn2085Lys) rs200406127 0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu) rs779629382 0.00004
NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr) rs746638965 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.9296G>A (p.Arg3099His) rs778257510 0.00004
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) rs752428122 0.00004
NM_003482.4(KMT2D):c.10206G>C (p.Leu3402=) rs776321392 0.00003
NM_003482.4(KMT2D):c.10469C>T (p.Pro3490Leu) rs376980951 0.00003
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile) rs200638996 0.00003
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile) rs756017412 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=) rs748740454 0.00003
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) rs777604931 0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) rs764604229 0.00003
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409 0.00003
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp) rs368767696 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg) rs1373179700 0.00003
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707 0.00003
NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp) rs773802581 0.00003
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705 0.00002
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) rs797045657 0.00002
NM_003482.4(KMT2D):c.251G>A (p.Arg84His) rs780096090 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) rs532098737 0.00002
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765 0.00002
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val) rs1299043216 0.00001
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673 0.00001
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=) rs771212750 0.00001
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258 0.00001
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser) rs1342235871 0.00001
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141 0.00001
NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala) rs532360713 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys) rs1238014538 0.00001
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) rs1188206999 0.00001
NM_003482.4(KMT2D):c.14075+8C>T rs962057732 0.00001
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser) rs761594079 0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) rs771209224 0.00001
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) rs587783694 0.00001
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) rs781012274 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 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.16115C>G (p.Thr5372Ser) rs779587030 0.00001
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu) rs776242478 0.00001
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=) rs975080118 0.00001
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser) rs1938304119 0.00001
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu) rs371342351 0.00001
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) rs976882824 0.00001
NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile) rs755939422 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) rs779260688 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 0.00001
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu) rs765343914 0.00001
NM_003482.4(KMT2D):c.5782+1G>A rs766123066 0.00001
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His) rs374216845 0.00001
NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His) rs772506992 0.00001
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu) rs574231443 0.00001
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=) rs374077422 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu) rs398123762 0.00001
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725 0.00001
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser) rs746344900 0.00001
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062 0.00001
NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=) rs370192252 0.00001
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) rs1943073751
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3]) rs771711980
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) rs576788910
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.11819_11836dup (p.Leu3940_Gln3945dup) rs1160407199
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del) rs886049475
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) rs1304208223
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.12700_12701del (p.Gln4235fs) rs1942942020
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.12999G>T (p.Glu4333Asp) rs767696694
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del) rs771787499
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=) rs727503981
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=) rs727503980
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg) rs1942591901
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) rs575965702
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.4(KMT2D):c.176+15G>A rs1415205254
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala) rs372919446
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1961C>A (p.Ser654Tyr) rs747101567
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) rs780334086
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=) rs398123740
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser) rs143711798
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser)
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) rs772169265
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.4031T>C (p.Ile1344Thr)
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.4723A>C (p.Met1575Leu) rs762474552
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5967G>A (p.Thr1989=) rs199555915
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=) rs727503985
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) rs1943505364
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8107_8109del (p.Glu2703del) rs771294848
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg) rs1943376258
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) rs768814728
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512

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.