ClinVar Miner

List of variants in gene KMT2D reported as likely benign for Kabuki syndrome

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Gene type:
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Total variants: 108
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HGVS dbSNP
NM_003482.3(KMT2D):c.*1041G>T rs563489548
NM_003482.3(KMT2D):c.*2044C>A rs190063096
NM_003482.3(KMT2D):c.*2077G>A rs7975791
NM_003482.3(KMT2D):c.*2146C>A rs559450337
NM_003482.3(KMT2D):c.*2354G>T rs537330938
NM_003482.3(KMT2D):c.*362C>T rs532505729
NM_003482.3(KMT2D):c.*456C>G rs564266476
NM_003482.3(KMT2D):c.*463dup rs201717312
NM_003482.3(KMT2D):c.*815C>T rs192035980
NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) rs80149580
NM_003482.3(KMT2D):c.10179G>A (p.Pro3393=) rs368612015
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.10599T>C (p.Gly3533=) rs751946037
NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) rs61942218
NM_003482.3(KMT2D):c.10741-7A>G rs550510739
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.11313C>A (p.Pro3771=) rs200639395
NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424
NM_003482.3(KMT2D):c.1155C>T (p.Pro385=) rs545791832
NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195
NM_003482.3(KMT2D):c.11670C>T (p.Ser3890=) rs376471354
NM_003482.3(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12084C>T (p.Thr4028=) rs553360102
NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963
NM_003482.3(KMT2D):c.1259-13G>A rs373466438
NM_003482.3(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.3(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13095T>C (p.Leu4365=) rs767751775
NM_003482.3(KMT2D):c.13259G>A (p.Arg4420Gln) rs375999143
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13671+5dup rs147210845
NM_003482.3(KMT2D):c.1378C>A (p.Pro460Thr) rs201089405
NM_003482.3(KMT2D):c.14075+11G>C rs770360649
NM_003482.3(KMT2D):c.14643+12G>A rs186670730
NM_003482.3(KMT2D):c.14883C>T (p.Pro4961=) rs770276955
NM_003482.3(KMT2D):c.15085A>C (p.Met5029Leu) rs540734063
NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) rs373414243
NM_003482.3(KMT2D):c.15120C>T (p.Asp5040=) rs143955226
NM_003482.3(KMT2D):c.15540G>C (p.Val5180=) rs149393179
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15786C>T (p.Ala5262=) rs531361015
NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) rs55776396
NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) rs199798179
NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) rs371243627
NM_003482.3(KMT2D):c.1797G>A (p.Leu599=) rs113282510
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.1965C>A (p.Pro655=) rs200939188
NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) rs200116899
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.2340C>T (p.Cys780=) rs530563702
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003482.3(KMT2D):c.2798-7delC rs112620957
NM_003482.3(KMT2D):c.2838G>A (p.Ala946=) rs376753331
NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.3(KMT2D):c.3180G>T (p.Lys1060Asn) rs201568916
NM_003482.3(KMT2D):c.3181G>T (p.Val1061Leu) rs200450910
NM_003482.3(KMT2D):c.3408G>A (p.Glu1136=) rs372234918
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115
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.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.4694C>T (p.Ala1565Val) rs200119692
NM_003482.3(KMT2D):c.477T>G (p.Gly159=) rs398123747
NM_003482.3(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393
NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) rs114731584
NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) rs201686029
NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) rs111924728
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.5492A>T (p.Asp1831Val) rs367762013
NM_003482.3(KMT2D):c.5868-8C>T rs75783546
NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) rs182887940
NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) rs77794669
NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948
NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) rs377392943
NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
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.6704G>A (p.Arg2235Lys) rs551403860
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.682C>G (p.Arg228Gly) rs201994402
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
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.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819
NM_003482.3(KMT2D):c.7607T>C (p.Phe2536Ser) rs199628497
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410
NM_003482.3(KMT2D):c.8046+11A>G rs145186737
NM_003482.3(KMT2D):c.8047-15C>T rs202244933
NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) rs116686402
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.8813C>T (p.Pro2938Leu) rs142395705
NM_003482.3(KMT2D):c.8904G>A (p.Pro2968=) rs767700267
NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) rs183688784

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