ClinVar Miner

Variants with conflicting interpretations studied for Kabuki syndrome 1

Coded as:
Minimum review status of the submission for Kabuki syndrome 1: Y axis collection method of the submission for Kabuki syndrome 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
262 39 0 35 25 0 9 66

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.

All conditions
Kabuki syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 17 2 1 0
likely pathogenic 24 0 4 2 0
uncertain significance 1 2 0 20 13
likely benign 0 0 4 0 8
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 9 0 7 19 0 2 26
not provided 0 22 0 10 7 0 6 23
Kabuki syndrome 0 14 0 7 14 0 2 22
Kabuki syndrome 1 333 16 0 15 1 0 2 18
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 0 0 0 0 1 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 66
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.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.11220_11222dupGCA (p.Gln3745_His3746insGln) rs398123707
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11422delG (p.Ala3808Leufs) rs1555188704
NM_003482.3(KMT2D):c.1143delC (p.Thr382Leufs) rs1064796125
NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.11756_11758dup (p.Gln3919_Leu3920insGln) rs1555188499
NM_003482.3(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999
NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) rs587783686
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13032delC (p.Lys4345Asnfs) rs398123716
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444Argfs) rs587783689
NM_003482.3(KMT2D):c.13671+10dupC rs147210845
NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) rs587783693
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
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.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
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.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.1940delC (p.Pro647Hisfs) rs770315135
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) rs398123744
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.3(KMT2D):c.5124_5125del (p.Arg1709Hisfs) rs886043506
NM_003482.3(KMT2D):c.5908_5915delGACAGCCC (p.Asp1970Leufs) rs398123751
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) 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.7046C>T (p.Pro2349Leu) rs201581582
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) rs3741625
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
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.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) rs148457961
NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) rs587783728
NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
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_006892.3(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810
NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359

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