ClinVar Miner

Variants in gene KMT2D with conflicting interpretations

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
1279 102 0 65 47 0 6 108

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 30 2 0 1
likely pathogenic 30 0 5 2 0
uncertain significance 2 5 0 34 15
likely benign 0 2 34 0 35
benign 1 0 15 35 0

All variants with conflicting interpretations #

Total variants: 108
Download table as spreadsheet
HGVS dbSNP
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) rs773395827
NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11037A>G (p.Gln3679=) rs374418866
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11304T>C (p.Ala3768=) rs771212750
NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424
NM_003482.3(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.3(KMT2D):c.1149C>T (p.Asp383=) rs201709328
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141
NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) rs180784366
NM_003482.3(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.3(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.3(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160
NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963
NM_003482.3(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.3(KMT2D):c.13531-10T>C rs769029919
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13671+10dup rs147210845
NM_003482.3(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.3(KMT2D):c.14193G>A (p.Glu4731=) rs368920289
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
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.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.192G>A (p.Arg64=) rs375169999
NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) rs147212187
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
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.2232A>C (p.Ser744=) rs200155807
NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) rs587778449
NM_003482.3(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.3(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.3(KMT2D):c.2798-7del rs112620957
NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) rs369436545
NM_003482.3(KMT2D):c.3027G>A (p.Val1009=) rs138227815
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) rs201794205
NM_003482.3(KMT2D):c.3819C>T (p.Cys1273=) rs373373098
NM_003482.3(KMT2D):c.4020+13C>G rs184377216
NM_003482.3(KMT2D):c.4089C>T (p.Thr1363=) rs369601017
NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) rs1368572
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.4986C>T (p.Cys1662=) rs143063879
NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) rs201686029
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.3(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.3(KMT2D):c.6264C>T (p.Thr2088=) rs370414767
NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) rs377392943
NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) rs374077422
NM_003482.3(KMT2D):c.6477C>T (p.Leu2159=) rs774164988
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_003482.3(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) rs398123756
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) rs111305262
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7629G>A (p.Gly2543=) rs201357509
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.8047-15C>T rs202244933
NM_003482.3(KMT2D):c.8047-7dup rs200754433
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.3(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.3(KMT2D):c.8382C>A (p.Gly2794=) rs368967997
NM_003482.3(KMT2D):c.840-6C>T rs182926808
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
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.9385C>T (p.Pro3129Ser) rs200089754
NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) rs183688784
NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498
NM_003482.4(KMT2D):c.15088C>T rs1555185875
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.4135_4136del rs398123744
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)

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